R586W (p.Arg586Trp) variant of SMC1A (Q14683)
R586W (p.Arg586Trp) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes published literature and structural context.
R586W (p.Arg586Trp) variant details
- p.Arg586Trp
- rs2146599836
- ClinGen CA413253273
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59128
- Likely pathogenic
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)