G32V (p.Gly32Val) variant of MCCC2 (Q9HCC0)
G32V (p.Gly32Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- gnomAD 5-71587520-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.70
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available