R6G (p.Arg6Gly) variant of MCCC2 (Q9HCC0)
R6G (p.Arg6Gly) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 5-71587441-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.54
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available