C12Y (p.Cys12Tyr) variant of MCCC2 (Q9HCC0)
C12Y (p.Cys12Tyr) 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 and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- gnomAD rs1190101205
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.40
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available