F17V (p.Phe17Val) variant of MITF (O75030)
F17V (p.Phe17Val) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F17V (p.Phe17Val) variant details
- p.Phe17Val
- gnomAD 3-69739646-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.21
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available