H47H (p.His47His) variant of ATP6V1A (P38606)
H47H (p.His47His) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- gnomAD 3-113781108-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available