S71L (p.Ser71Leu) variant of ATP6V1A (P38606)
S71L (p.Ser71Leu) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S71L (p.Ser71Leu) variant details
- p.Ser71Leu
- gnomAD 3-113781176-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available