Y24C (p.Tyr24Cys) variant of MITF (O75030)
Y24C (p.Tyr24Cys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- Ensembl rs1559601708
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.35
- CADD 25.70
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available