L230Q (p.Leu230Gln) variant of CBS (Cystathionine beta-synthase)
L230Q (p.Leu230Gln) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L230Q (p.Leu230Gln) variant details
- p.Leu230Gln
- rs1411597530
- ClinGen CA410600601
- ClinVar RCV003460335
- TOPMed rs1411597530
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.88
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.52
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.118
- 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)