R57R (p.Arg57Arg) variant of SMC3 (Q9UQE7)
R57R (p.Arg57Arg) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R57R (p.Arg57Arg) variant details
- p.Arg57Arg
- gnomAD 10-110575376-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 13.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available