W287S (p.Trp287Ser) variant of TGFBR2 (TGF-beta receptor type-2)
W287S (p.Trp287Ser) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
W287S (p.Trp287Ser) variant details
- p.Trp287Ser
- rs2125434732
- ClinGen CA351808030
- ClinVar RCV001724739
- Ensembl rs2125434732
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)