G116R (p.Gly116Arg) variant of CBS (Cystathionine beta-synthase)
G116R (p.Gly116Arg) 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 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs760214620
- ClinGen CA273957
- ClinVar RCV000169116
- ClinVar RCV001844063
- Pathogenic
- Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.40
- 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 Latino/Admixed American population (allele frequency 7.7e-05)
- Structural context available
- CBS high-B6 imputed and refined: score 0.438
- Cited in: Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with… (PMID 8803779)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)