D43V (p.Asp43Val) variant of SMC1A (Q14683)
D43V (p.Asp43Val) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- rs1569359535
- ClinGen CA413133099
- ClinVar RCV000680259
- Ensembl rs1569359535
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)