R218Q (p.Arg218Gln) variant of SMC1A (Q14683)
R218Q (p.Arg218Gln) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R218Q (p.Arg218Gln) variant details
- p.Arg218Gln
- rs2075719827
- ClinGen CA413258909
- ClinVar RCV002730105
- ClinVar RCV005050629
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic e
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.27
- ESM-1b 0.45
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.85
- CADD 21.50
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; Developmental)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)