M1K (p.Met1Lys) variant of MITF (O75030)
M1K (p.Met1Lys) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs150321715
- gnomAD 3-69794509-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.38
- Population evidence available
- Structural context available
- Literature evidence available