K108R (p.Lys108Arg) variant of CBS (Cystathionine beta-synthase)
K108R (p.Lys108Arg) 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 CBS-related disorder; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements and structural context.
K108R (p.Lys108Arg) variant details
- p.Lys108Arg
- rs2146395442
- ClinGen CA410601950
- ClinVar RCV002031962
- ClinVar RCV003403666
- Uncertain significance
- CBS-related disorder; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.99
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (CBS-related disorder; Classic homocystinuria; HYPERHOMOCYSTEINEM)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0