G38A (p.Gly38Ala) variant of MCCC2 (Q9HCC0)
G38A (p.Gly38Ala) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- gnomAD 5-71587535-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available