S85S (p.Ser85Ser) variant of SMC3 (Q9UQE7)
S85S (p.Ser85Ser) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S85S (p.Ser85Ser) variant details
- p.Ser85Ser
- rs146433240
- gnomAD 10-110577477-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.71
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)