R398* (p.Arg398Ter) variant of SMC1A (Q14683)
R398* (p.Arg398Ter) in SMC1A (Q14683) is a protein-truncating 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 0.42 / 1. The record also includes population frequency data and structural context.
R398* (p.Arg398Ter) variant details
- p.Arg398Ter
- rs886041902
- ClinGen CA10603610
- ClinVar RCV000342065
- Ensembl rs886041902
- Pathogenic
- in CDLS2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 32.00
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available