R208G (p.Arg208Gly) variant of SMC1A (Q14683)
R208G (p.Arg208Gly) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R208G (p.Arg208Gly) variant details
- p.Arg208Gly
- rs1057520375
- ClinGen CA16608889
- ClinVar RCV000439297
- ClinVar RCV001527652
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.61
- MetaSVM 0.35
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)