E95K (p.Glu95Lys) variant of SMC3 (Q9UQE7)
E95K (p.Glu95Lys) 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; Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs869312672
- ClinGen CA090929
- ClinVar RCV000209912
- ClinVar RCV004017489
- Likely pathogenic
- De Lange syndrome; Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (De Lange syndrome; Cornelia de Lange syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)