S23L (p.Ser23Leu) variant of CBS (Cystathionine beta-synthase)
S23L (p.Ser23Leu) 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 not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs775785018
- ClinGen CA321104075
- ClinVar RCV000798452
- ClinVar RCV001538815
- Conflicting interpretations
- not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.77
- SIFT 0.81
- MutPred 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Fam)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0696
- 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)