S4S (p.Ser4Ser) variant of ATP6V1A (P38606)
S4S (p.Ser4Ser) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- gnomAD 3-113778765-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available