D36H (p.Asp36His) variant of MCCC2 (Q9HCC0)
D36H (p.Asp36His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- gnomAD 5-71587531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.74
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available