L27V (p.Leu27Val) variant of MITF (O75030)
L27V (p.Leu27Val) 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.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- rs1466374667
- gnomAD 3-69763893-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 0.01
- Population evidence available
- Structural context available
- Literature evidence available