R807H (p.Arg807His) variant of SMC1A (Q14683)
R807H (p.Arg807His) 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 0.84 / 1. The record also includes published literature and structural context.
R807H (p.Arg807His) variant details
- p.Arg807His
- rs1569356550
- ClinGen CA413250889
- NCI-TCGA Cosmic COSV5913
- cosmic curated COSV59131
- Pathogenic/Likely pathogenic
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.73
- MetaSVM 0.69
- 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)