P27P (p.Pro27Pro) variant of ATP6V1A (P38606)
P27P (p.Pro27Pro) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P27P (p.Pro27Pro) variant details
- p.Pro27Pro
- gnomAD 3-113778834-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available