K36* (p.Lys36Ter) variant of SMAD3 (SMAD family member 3)
K36* (p.Lys36Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
K36* (p.Lys36Ter) variant details
- p.Lys36Ter
- rs1420747523
- ClinGen CA393202902
- ClinVar RCV003486418
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)