I20V (p.Ile20Val) variant of TGFBR2 (TGF-beta receptor type-2)
I20V (p.Ile20Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- rs1697933766
- ClinGen CA351830570
- ClinVar RCV001179663
- ClinVar RCV004033040
- Uncertain significance/Uncertain risk allele
- Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance/Uncertain risk allele (Diabetic retinopathy; Familial thoracic aortic aneurysm and aort)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)