R398G (p.Arg398Gly) variant of SMC1A (Q14683)
R398G (p.Arg398Gly) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDLS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R398G (p.Arg398Gly) variant details
- p.Arg398Gly
- UniProt VAR 078274
- Pathogenic
- in CDLS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and… (PMID 24124034)
- Cited in: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. (PMID 16604071)