R45Q (p.Arg45Gln) variant of CBS (Cystathionine beta-synthase)
R45Q (p.Arg45Gln) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs759502207
- ClinGen CA10583892
- ClinVar RCV000229516
- ClinVar RCV001658051
- Uncertain significance
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.93
- MetaSVM 0.81
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.549
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)