R218W (p.Arg218Trp) variant of SMC1A (Q14683)
R218W (p.Arg218Trp) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R218W (p.Arg218Trp) variant details
- p.Arg218Trp
- rs782811561
- ClinGen CA10420647
- ClinVar RCV002075129
- ClinVar RCV005050535
- Conflicting interpretations
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.50
- MetaSVM 0.12
- CADD 27.40
- ClinVar: Conflicting classifications of pathogenicity (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)