G32C (p.Gly32Cys) variant of MCCC2 (Q9HCC0)
G32C (p.Gly32Cys) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- gnomAD 5-71587519-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.73
- CADD 27.50
- PolyPhen-2 0.83
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available