S52R (p.Ser52Arg) variant of TGFB2 (P61812)
S52R (p.Ser52Arg) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- rs1431335293
- ClinGen CA344725410
- ClinVar RCV001903650
- ClinVar RCV004822956
- Uncertain significance
- not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.38
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.03
- 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 Latino/Admixed American population (allele frequency 4.5e-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)