L57L (p.Leu57Leu) variant of ATP6V1A (P38606)
L57L (p.Leu57Leu) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs1450732273
- gnomAD 3-113781136-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.17
- Population evidence available
- Structural context available
- Literature evidence available