R14R (p.Arg14Arg) variant of MCCC2 (Q9HCC0)
R14R (p.Arg14Arg) in MCCC2 (Q9HCC0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- rs1018412147
- gnomAD 5-71587467-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 8.36
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available