V8V (p.Val8Val) variant of MITF (O75030)
V8V (p.Val8Val) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs968258324
- gnomAD 3-69739621-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available