A15S (p.Ala15Ser) variant of MCCC2 (Q9HCC0)
A15S (p.Ala15Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 5-71587468-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.27
- CADD 8.78
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available