R21H (p.Arg21His) variant of MCCC2 (Q9HCC0)
R21H (p.Arg21His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- gnomAD 5-71587487-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.60
- CADD 26.00
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available