R18S (p.Arg18Ser) variant of CBS (Cystathionine beta-synthase)
R18S (p.Arg18Ser) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- rs201827340
- ClinGen CA321104102
- cosmic curated COSV61446
- ClinVar RCV002241272
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.29
- SIFT 0.78
- MutPred 0.12
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.749