S25W (p.Ser25Trp) variant of ATP6V1A (P38606)
S25W (p.Ser25Trp) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S25W (p.Ser25Trp) variant details
- p.Ser25Trp
- gnomAD 3-113778826-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available