P145L (p.Pro145Leu) variant of CBS (Cystathionine beta-synthase)
P145L (p.Pro145Leu) 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; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P145L (p.Pro145Leu) variant details
- p.Pro145Leu
- rs121964963
- ClinGen CA113876
- ClinVar RCV000000139
- ClinVar RCV000625555
- Pathogenic/Likely pathogenic
- Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.10
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, TH)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.0851
- Cited in: Molecular defect in a patient with pyridoxine-responsive homocystinuria. (PMID 8353501)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)