L6I (p.Leu6Ile) variant of ATP6V1A (P38606)
L6I (p.Leu6Ile) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- gnomAD 3-113778769-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available