P27H (p.Pro27His) variant of ATP6V1A (P38606)
P27H (p.Pro27His) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD 3-113778833-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available