C12R (p.Cys12Arg) variant of MCCC2 (Q9HCC0)
C12R (p.Cys12Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- gnomAD 5-71587459-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.26
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available