G19S (p.Gly19Ser) variant of ATP6V1A (P38606)
G19S (p.Gly19Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD 3-113778808-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available