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Gene: ATP6AP2


ATP6AP2
ATPase, H+ transporting, lysosomal accessory protein 2
Number of variants
(Including filtered: 198)
Number of CNVs
N/A
OMIM
ATP6AP2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 33.0 27 z = 0.65
Missense 79.6 55 z = 1.35
LoF 9.2 1 pLI = 0.79
CNV nan nan z = nan

Gene summary

(canonical transcript: ENST00000378438)

Mean coverage


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