M253T (p.Met253Thr) variant of TGFBR1 (TGF-beta receptor type-1)
M253T (p.Met253Thr) in TGFBR1 (TGF-beta receptor type-1) 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 0.52 / 1. The record also includes structural context.
M253T (p.Met253Thr) variant details
- p.Met253Thr
- rs863223815
- ClinGen CA321603
- ClinVar RCV000197160
- Ensembl rs863223815
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 1.00
- MetaLR 0.36
- MetaSVM -0.40
- PolyPhen-2 0.49
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available