G59D (p.Gly59Asp) variant of ATP6V1A (P38606)
G59D (p.Gly59Asp) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- gnomAD rs1379328654
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available