P65S (p.Pro65Ser) variant of TGFB2 (P61812)
P65S (p.Pro65Ser) in TGFB2 (P61812) 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 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- rs747128130
- ClinGen CA1398383
- ClinVar RCV001824330
- ClinVar RCV002413476
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.03
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)