G14V (p.Gly14Val) variant of MITF (O75030)
G14V (p.Gly14Val) 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.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 3-69739638-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.35
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available