A13S (p.Ala13Ser) variant of MCCC2 (Q9HCC0)
A13S (p.Ala13Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 5-71587462-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.14
- CADD 5.78
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available