G52G (p.Gly52Gly) variant of ATP6V1A (P38606)
G52G (p.Gly52Gly) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G52G (p.Gly52Gly) variant details
- p.Gly52Gly
- gnomAD 3-113781123-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available