P65L (p.Pro65Leu) variant of TGFB2 (P61812)
P65L (p.Pro65Leu) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs750324465
- ClinGen CA324601
- ClinVar RCV000200048
- ClinVar RCV000765072
- Uncertain significance
- not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.70
- ClinVar: Uncertain significance (not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- 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)