G6W (p.Gly6Trp) variant of MITF (O75030)
G6W (p.Gly6Trp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G6W (p.Gly6Trp) variant details
- p.Gly6Trp
- gnomAD 3-69739613-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.38
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available