G151R (p.Gly151Arg) variant of CBS (Cystathionine beta-synthase)
G151R (p.Gly151Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G151R (p.Gly151Arg) variant details
- p.Gly151Arg
- rs373782713
- ClinGen CA321097418
- cosmic curated COSV10065
- ClinVar RCV001070719
- Pathogenic
- Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, TH)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 9.2e-05)
- Structural context available
- CBS high-B6: score 0.0153
- 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)