F11L (p.Phe11Leu) variant of MITF (O75030)
F11L (p.Phe11Leu) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- Ensembl rs2106732545
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- CADD 25.80
- PolyPhen-2 0.10
- SIFT 0.04
- Population evidence available
- Structural context available