R711Q (p.Arg711Gln) variant of SMC1A (Q14683)
R711Q (p.Arg711Gln) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R711Q (p.Arg711Gln) variant details
- p.Arg711Gln
- rs782176647
- ClinGen CA10420477
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59129
- Pathogenic/Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.65
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with… (PMID 20358602)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)