G1188V (p.Gly1188Val) variant of SMC3 (Q9UQE7)
G1188V (p.Gly1188Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G1188V (p.Gly1188Val) variant details
- p.Gly1188Val
- rs1590572104
- ClinGen CA378395561
- ClinVar RCV000857235
- Ensembl rs1590572104
- Likely pathogenic
- De Lange syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (De Lange syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)