A29V (p.Ala29Val) variant of MCCC2 (Q9HCC0)
A29V (p.Ala29Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 5-71587511-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.45
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available