Y983C (p.Tyr983Cys) variant of SMC1A (Q14683)
Y983C (p.Tyr983Cys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
Y983C (p.Tyr983Cys) variant details
- p.Tyr983Cys
- rs1556887759
- ClinGen CA413247283
- ClinVar RCV001031001
- ClinVar RCV005871106
- Pathogenic/Likely pathogenic
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)