V15F (p.Val15Phe) variant of TGFBR2 (TGF-beta receptor type-2)
V15F (p.Val15Phe) 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 not provided; Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V15F (p.Val15Phe) variant details
- p.Val15Phe
- rs1182907194
- ClinGen CA351830539
- ClinVar RCV000774425
- ClinVar RCV004001398
- Uncertain significance/Uncertain risk allele
- not provided; Diabetic retinopathy; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; Diabetic retinopathy; Familial thoracic aortic ane)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)