D234N (p.Asp234Asn) variant of CBS (Cystathionine beta-synthase)
D234N (p.Asp234Asn) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D234N (p.Asp234Asn) variant details
- p.Asp234Asn
- rs773734233
- ClinGen CA324489
- NCI-TCGA Cosmic COSV6144
- cosmic curated COSV61442
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 27.10
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinuria; n)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the REMAINING population (allele frequency 0.0018)
- Structural context available
- CBS low-B6 imputed and refined: score 0.309
- Cited in: Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for… (PMID 23981774)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)