R21S (p.Arg21Ser) variant of MCCC2 (Q9HCC0)
R21S (p.Arg21Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- gnomAD 5-71587486-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available