E144K (p.Glu144Lys) variant of CBS (Cystathionine beta-synthase)
E144K (p.Glu144Lys) 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 CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E144K (p.Glu144Lys) variant details
- p.Glu144Lys
- rs121964966
- ClinGen CA113885
- ClinVar RCV000000144
- ClinVar RCV000169074
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.07
- CADD 24.90
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the South Asian population (allele frequency 7.9e-05)
- Structural context available
- CBS low-B6: score 0
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)