K22K (p.Lys22Lys) variant of MITF (O75030)
K22K (p.Lys22Lys) in MITF (O75030) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K22K (p.Lys22Lys) variant details
- p.Lys22Lys
- gnomAD 3-69739663-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available