V28M (p.Val28Met) variant of MCCC2 (Q9HCC0)
V28M (p.Val28Met) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- gnomAD 5-71587507-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.54
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available