R14S (p.Arg14Ser) variant of MCCC2 (Q9HCC0)
R14S (p.Arg14Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- gnomAD 5-71587465-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.39
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available