L136P (p.Leu136Pro) variant of CBS (Cystathionine beta-synthase)
L136P (p.Leu136Pro) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homocystinuria; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L136P (p.Leu136Pro) variant details
- p.Leu136Pro
- rs775937459
- ClinGen CA321097579
- ClinVar RCV003460340
- ClinVar RCV005062970
- Pathogenic/Likely pathogenic
- Homocystinuria; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; Classic homocystinuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.9e-05)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0581
- 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)