V28A (p.Val28Ala) variant of MCCC2 (Q9HCC0)
V28A (p.Val28Ala) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- gnomAD 5-71587508-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.39
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available