V8L (p.Val8Leu) variant of MITF (O75030)
V8L (p.Val8Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD 3-69739619-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available