M39L (p.Met39Leu) variant of ATP6V1A (P38606)
M39L (p.Met39Leu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
M39L (p.Met39Leu) variant details
- p.Met39Leu
- ExAC rs750858415
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 0.52
- SIFT 0.02
- Population evidence available
- Structural context available