A13V (p.Ala13Val) variant of MCCC2 (Q9HCC0)
A13V (p.Ala13Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 5-71587463-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.22
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available