R56L (p.Arg56Leu) variant of ATP6V1A (P38606)
R56L (p.Arg56Leu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- gnomAD 3-113781134-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available