K22N (p.Lys22Asn) variant of MITF (O75030)
K22N (p.Lys22Asn) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- gnomAD 3-69763904-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 6.29
- Population evidence available
- Structural context available
- Literature evidence available