I54M (p.Ile54Met) variant of ATP6V1A (P38606)
I54M (p.Ile54Met) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
I54M (p.Ile54Met) variant details
- p.Ile54Met
- ESP rs371639275
- ExAC rs371639275
- TOPMed rs371639275
- gnomAD rs371639275
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.80
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available