V13F (p.Val13Phe) variant of MITF (O75030)
V13F (p.Val13Phe) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V13F (p.Val13Phe) variant details
- p.Val13Phe
- gnomAD 3-69739634-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- CADD 25.60
- PolyPhen-2 0.44
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available