R336H (p.Arg336His) variant of CBS (Cystathionine beta-synthase)
R336H (p.Arg336His) 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 Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R336H (p.Arg336His) variant details
- p.Arg336His
- rs760417941
- ClinGen CA16041997
- cosmic curated COSV10647
- ClinVar RCV000409189
- Pathogenic/Likely pathogenic
- Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- CADD 25.60
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; C)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.033)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0357
- Cited in: Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. (PMID 16429402)
- Cited in: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional… (PMID 23974653)