R14H (p.Arg14His) variant of MCCC2 (Q9HCC0)
R14H (p.Arg14His) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- Ensembl rs1007270449
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.01
- Population evidence available
- Structural context available