R88R (p.Arg88Arg) variant of SMC3 (Q9UQE7)
R88R (p.Arg88Arg) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R88R (p.Arg88Arg) variant details
- p.Arg88Arg
- gnomAD 10-110577484-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available