A18V (p.Ala18Val) variant of MCCC2 (Q9HCC0)
A18V (p.Ala18Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 5-71587478-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available