S16Y (p.Ser16Tyr) variant of MCCC2 (Q9HCC0)
S16Y (p.Ser16Tyr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S16Y (p.Ser16Tyr) variant details
- p.Ser16Tyr
- gnomAD 5-71587472-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.29
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available