S127R (p.Ser127Arg) variant of SMC3 (Q9UQE7)
S127R (p.Ser127Arg) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of De Lange syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S127R (p.Ser127Arg) variant details
- p.Ser127Arg
- rs748876063
- ClinGen CA378373836
- ClinVar RCV000857247
- ClinVar RCV003372893
- Likely pathogenic
- De Lange syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (De Lange syndrome; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)