R51K (p.Arg51Lys) variant of CBS (Cystathionine beta-synthase)
R51K (p.Arg51Lys) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a. 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.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs370983323
- ClinGen CA16621017
- cosmic curated COSV61444
- ClinVar RCV000486724
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.46
- SIFT 1.00
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Fam)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS high-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)