F18S (p.Phe18Ser) variant of ATP6V1A (P38606)
F18S (p.Phe18Ser) 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, published literature, and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- gnomAD 3-113778806-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.60
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available