R353W (p.Arg353Trp) variant of SMC1A (Q14683)
R353W (p.Arg353Trp) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 85, with or without midline brain de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R353W (p.Arg353Trp) variant details
- p.Arg353Trp
- rs781862992
- ClinGen CA10420610
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59127
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 85, with or without midline brain de
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.41
- MetaSVM -0.01
- CADD 27.50
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 85, with or without)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)