G72G (p.Gly72Gly) variant of ATP6V1A (P38606)
G72G (p.Gly72Gly) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G72G (p.Gly72Gly) variant details
- p.Gly72Gly
- rs769912385
- gnomAD 3-113784228-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 12.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available