A21T (p.Ala21Thr) variant of TGFBR2 (TGF-beta receptor type-2)
A21T (p.Ala21Thr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection; Diabetic retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- cosmic curated COSV55446
- TOPMed rs1697933901
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection; Diabetic retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection; Diabeti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available