A18D (p.Ala18Asp) variant of MCCC2 (Q9HCC0)
A18D (p.Ala18Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 5-71587478-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.26
- CADD 15.50
- PolyPhen-2 0.05
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available