G11R (p.Gly11Arg) variant of CBS (Cystathionine beta-synthase)
G11R (p.Gly11Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- gnomAD rs1205411379
- Uncertain significance
- Homocystinuria; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available
- CBS high-B6: score 0.873