A15G (p.Ala15Gly) variant of MCCC2 (Q9HCC0)
A15G (p.Ala15Gly) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 5-71587469-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available