E20V (p.Glu20Val) variant of MITF (O75030)
E20V (p.Glu20Val) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- rs1478378726
- gnomAD 3-69763900-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0805
- CADD 0.05
- Population evidence available
- Structural context available
- Literature evidence available