A29D (p.Ala29Asp) variant of MCCC2 (Q9HCC0)
A29D (p.Ala29Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD 5-71587511-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.56
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available