Y25F (p.Tyr25Phe) variant of MITF (O75030)
Y25F (p.Tyr25Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y25F (p.Tyr25Phe) variant details
- p.Tyr25Phe
- gnomAD 3-69739671-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- CADD 24.90
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available