Y25S (p.Tyr25Ser) variant of MITF (O75030)
Y25S (p.Tyr25Ser) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y25S (p.Tyr25Ser) variant details
- p.Tyr25Ser
- gnomAD 3-69739671-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available