H22R (p.His22Arg) variant of CBS (Cystathionine beta-synthase)
H22R (p.His22Arg) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- rs763151207
- ClinGen CA321891
- ClinVar RCV000197426
- ClinVar RCV000648122
- Uncertain significance
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.90
- MetaSVM 0.51
- SIFT 0.18
- MutPred 0.16
- 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 0.0979
- 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)