D10Y (p.Asp10Tyr) variant of MITF (O75030)
D10Y (p.Asp10Tyr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D10Y (p.Asp10Tyr) variant details
- p.Asp10Tyr
- gnomAD 3-69739625-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available