P31L (p.Pro31Leu) variant of MITF (O75030)
P31L (p.Pro31Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 3-69739689-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available