H18D (p.His18Asp) variant of MITF (O75030)
H18D (p.His18Asp) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H18D (p.His18Asp) variant details
- p.His18Asp
- gnomAD 3-69739649-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available