G59V (p.Gly59Val) variant of ATP6V1A (P38606)
G59V (p.Gly59Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G59V (p.Gly59Val) variant details
- p.Gly59Val
- gnomAD 3-113781143-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.71
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available