R14C (p.Arg14Cys) variant of MCCC2 (Q9HCC0)
R14C (p.Arg14Cys) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- gnomAD 5-71587465-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available