A60V (p.Ala60Val) variant of CBS (Cystathionine beta-synthase)
A60V (p.Ala60Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs765352771
- ClinGen CA321103781
- ClinVar RCV001317527
- ClinVar RCV002241981
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.84
- MetaSVM 0.62
- SIFT 0.24
- MutPred 0.16
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.676
- 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)