V28E (p.Val28Glu) variant of MCCC2 (Q9HCC0)
V28E (p.Val28Glu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V28E (p.Val28Glu) variant details
- p.Val28Glu
- gnomAD 5-71587508-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available