A24V (p.Ala24Val) variant of CBS (Cystathionine beta-synthase)
A24V (p.Ala24Val) 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.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs759682004
- ClinGen CA321104045
- cosmic curated COSV61441
- ClinVar RCV001091466
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.54
- SIFT 0.30
- MutPred 0.08
- 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 low-B6 imputed and refined: score 0.861
- 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)