R18* (p.Arg18Ter) variant of SMC1A (Q14683)
R18* (p.Arg18Ter) in SMC1A (Q14683) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R18* (p.Arg18Ter) variant details
- p.Arg18Ter
- rs2521010322
- ClinGen CA413135515
- ClinVar RCV003624097
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)