A22D (p.Ala22Asp) variant of MCCC2 (Q9HCC0)
A22D (p.Ala22Asp) 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, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- gnomAD 5-71587490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.26
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available