C12F (p.Cys12Phe) variant of MCCC2 (Q9HCC0)
C12F (p.Cys12Phe) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- gnomAD 5-71587460-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.36
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available