I143M (p.Ile143Met) variant of CBS (Cystathionine beta-synthase)
I143M (p.Ile143Met) 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 not provided; Homocystinuria; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I143M (p.Ile143Met) variant details
- p.Ile143Met
- rs370167302
- ClinGen CA410601680
- ClinVar RCV001732080
- ClinVar RCV002241315
- Pathogenic/Likely pathogenic
- not provided; Homocystinuria; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 7.88
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Homocystinuria; Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0019
- Cited in: Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. (PMID 15146473)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)