K277N (p.Lys277Asn) variant of TGFBR2 (TGF-beta receptor type-2)
K277N (p.Lys277Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
K277N (p.Lys277Asn) variant details
- p.Lys277Asn
- rs886038794
- ClinGen CA351807964
- cosmic curated COSV55454
- ClinVar RCV003644414
- Pathogenic
- Cardiovascular phenotype; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Pathogenic
- UniProt: 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)