Y25H (p.Tyr25His) variant of MITF (O75030)
Y25H (p.Tyr25His) 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.
Y25H (p.Tyr25His) variant details
- p.Tyr25His
- gnomAD 3-69739670-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.27
- CADD 30.00
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available