A3V (p.Ala3Val) variant of MCCC2 (Q9HCC0)
A3V (p.Ala3Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 5-71587433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.35
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available