H13N (p.His13Asn) variant of TGFB2 (P61812)
H13N (p.His13Asn) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; TGFB2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H13N (p.His13Asn) variant details
- p.His13Asn
- rs763918203
- ClinGen CA1398364
- ClinVar RCV000347838
- ClinVar RCV003422214
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; TGFB2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; TGFB2-r)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)