R22R (p.Arg22Arg) variant of CHAMP1 (Q96JM3)
R22R (p.Arg22Arg) in CHAMP1 (Q96JM3) is a synonymous 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.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- gnomAD 13-114323908-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available