p.Cys12 Pro20del variant of MCCC2 (Q9HCC0)
p.Cys12 Pro20del in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
p.Cys12 Pro20del variant details
- gnomAD 5-71587453-CGGCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available