N228K (p.Asn228Lys) variant of CBS (Cystathionine beta-synthase)
N228K (p.Asn228Lys) 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; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N228K (p.Asn228Lys) variant details
- p.Asn228Lys
- rs1464223176
- ClinGen CA410600617
- ClinVar RCV001175076
- ClinVar RCV001833732
- Pathogenic/Likely pathogenic
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0179
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. (PMID 15146473)