Q79R (p.Gln79Arg) variant of TGFB2 (P61812)
Q79R (p.Gln79Arg) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q79R (p.Gln79Arg) variant details
- p.Gln79Arg
- rs371241859
- ClinGen CA320534
- ClinVar RCV000196118
- ClinVar RCV001824298
- Uncertain significance
- not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.42
- 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 1KG:MXL population (allele frequency 0.0081)
- 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)