G25R (p.Gly25Arg) variant of MCCC2 (Q9HCC0)
G25R (p.Gly25Arg) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD 5-71587496-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available