A22V (p.Ala22Val) variant of MCCC2 (Q9HCC0)
A22V (p.Ala22Val) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD rs1326660260
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.26
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.31
- Population evidence available
- Structural context available