A8D (p.Ala8Asp) variant of MCCC2 (Q9HCC0)
A8D (p.Ala8Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 5-71587448-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.60
- CADD 9.31
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available