R1066H (p.Arg1066His) variant of SMC1A (Q14683)
R1066H (p.Arg1066His) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SMC1A-related disorder; Inborn genetic diseases; Congenital muscular hypertrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R1066H (p.Arg1066His) variant details
- p.Arg1066His
- rs1556886034
- ClinGen CA413244342
- cosmic curated COSV10589
- ClinVar RCV000623215
- Pathogenic/Likely pathogenic
- SMC1A-related disorder; Inborn genetic diseases; Congenital muscular hypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SMC1A-related disorder; Inborn genetic diseases; Congenital musc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)