P21H (p.Pro21His) variant of MITF (O75030)
P21H (p.Pro21His) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- gnomAD 3-69739659-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available