E176K (p.Glu176Lys) variant of CBS (Cystathionine beta-synthase)
E176K (p.Glu176Lys) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocysti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E176K (p.Glu176Lys) variant details
- p.Glu176Lys
- rs762065361
- ClinGen CA410601279
- ClinVar RCV000781199
- ClinVar RCV001220158
- Pathogenic
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocysti
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.06
- CADD 24.40
- ClinVar: Pathogenic (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- CBS low-B6: score 0.0298
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)