M1T (p.Met1Thr) variant of MITF (O75030)
M1T (p.Met1Thr) 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.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs150321715
- gnomAD 3-69794509-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.87
- Population evidence available
- Structural context available
- Literature evidence available