R21L (p.Arg21Leu) variant of MCCC2 (Q9HCC0)
R21L (p.Arg21Leu) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- gnomAD 5-71587487-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.77
- CADD 25.60
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available