V8G (p.Val8Gly) variant of MITF (O75030)
V8G (p.Val8Gly) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- rs1245506680
- gnomAD 3-69866307-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 20.80
- Population evidence available
- Structural context available
- Literature evidence available