L27R (p.Leu27Arg) variant of MITF (O75030)
L27R (p.Leu27Arg) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L27R (p.Leu27Arg) variant details
- p.Leu27Arg
- rs2107228215
- gnomAD 3-69866301-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available