G85R (p.Gly85Arg) variant of CBS (Cystathionine beta-synthase)
G85R (p.Gly85Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA. 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.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- rs863223435
- ClinGen CA319849
- cosmic curated COSV61446
- ClinVar RCV000195506
- Pathogenic
- not provided; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THRO)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the REMAINING population (allele frequency 4.9e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.203
- Cited in: High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine… (PMID 12007221)
- Cited in: Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for… (PMID 23981774)