V8A (p.Val8Ala) variant of MITF (O75030)
V8A (p.Val8Ala) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 3-69739620-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.22
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available