Y24H (p.Tyr24His) variant of MITF (O75030)
Y24H (p.Tyr24His) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y24H (p.Tyr24His) variant details
- p.Tyr24His
- gnomAD 3-69866342-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available