G6V (p.Gly6Val) variant of MITF (O75030)
G6V (p.Gly6Val) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 3-69739614-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.34
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available