E144Q (p.Glu144Gln) variant of CBS (Cystathionine beta-synthase)
E144Q (p.Glu144Gln) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
E144Q (p.Glu144Gln) variant details
- p.Glu144Gln
- rs121964966
- ClinGen CA321097472
- ClinVar RCV000538588
- ClinVar RCV001755867
- Conflicting interpretations
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.07
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0
- 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)