S4P (p.Ser4Pro) variant of ATP6V1A (P38606)
S4P (p.Ser4Pro) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD 3-113778758-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available