K22R (p.Lys22Arg) variant of MITF (O75030)
K22R (p.Lys22Arg) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- rs2106811262
- gnomAD 3-69763899-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 0.01
- Population evidence available
- Structural context available
- Literature evidence available