P70R (p.Pro70Arg) variant of CBS (Cystathionine beta-synthase)
P70R (p.Pro70Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
P70R (p.Pro70Arg) variant details
- p.Pro70Arg
- rs2229413
- ClinGen CA321103742
- ClinVar RCV002472146
- ClinVar RCV002573625
- Uncertain significance
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- ESM-1b 0.29
- AlphaMissense 0.06
- MetaLR 0.73
- MetaSVM -0.31
- SIFT 0.66
- ClinVar: Uncertain significance (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CBS low-B6 imputed and refined: score 0.802
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)