F11Y (p.Phe11Tyr) variant of MITF (O75030)
F11Y (p.Phe11Tyr) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F11Y (p.Phe11Tyr) variant details
- p.Phe11Tyr
- gnomAD 3-69739629-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.18
- CADD 29.40
- PolyPhen-2 0.53
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available