R6K (p.Arg6Lys) variant of MCCC2 (Q9HCC0)
R6K (p.Arg6Lys) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- Ensembl rs1215578653
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.45
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available