A15V (p.Ala15Val) variant of MCCC2 (Q9HCC0)
A15V (p.Ala15Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD 5-71587469-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.28
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available