R58Q (p.Arg58Gln) variant of CBS (Cystathionine beta-synthase)
R58Q (p.Arg58Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- cosmic curated COSV10967
- ExAC rs758648251
- gnomAD rs758648251
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CBSD)
- UniProt: Uncertain significance (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.134