Q2H (p.Gln2His) variant of MITF (O75030)
Q2H (p.Gln2His) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD 3-69739603-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.15
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available