A15D (p.Ala15Asp) variant of MCCC2 (Q9HCC0)
A15D (p.Ala15Asp) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD 5-71587469-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.37
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available