R121H (p.Arg121His) variant of CBS (Cystathionine beta-synthase)
R121H (p.Arg121His) 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; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R121H (p.Arg121His) variant details
- p.Arg121His
- rs770095972
- ClinGen CA274172
- cosmic curated COSV61442
- ClinVar RCV000169322
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 7e-05)
- Structural context available
- CBS low-B6: score 0
- Cited in: Cystathionine beta-synthase mutations in homocystinuria. (PMID 10338090)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)