R88Q (p.Arg88Gln) variant of SMC3 (Q9UQE7)
R88Q (p.Arg88Gln) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs2493105845
- ClinGen CA378372033
- ClinVar RCV003503884
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)