H13Q (p.His13Gln) variant of TGFBR2 (TGF-beta receptor type-2)
H13Q (p.His13Gln) 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; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H13Q (p.His13Gln) variant details
- p.His13Gln
- gnomAD rs1437593960
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available