E141K (p.Glu141Lys) variant of SMC1A (Q14683)
E141K (p.Glu141Lys) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDLS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
E141K (p.Glu141Lys) variant details
- p.Glu141Lys
- rs587784420
- ClinGen CA272583
- cosmic curated COSV59131
- ClinVar RCV000147569
- Pathogenic
- in CDLS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. (PMID 19701948)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)