G20E (p.Gly20Glu) variant of CBS (Cystathionine beta-synthase)
G20E (p.Gly20Glu) 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; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1983457688
- ClinGen CA410602531
- cosmic curated COSV61442
- ClinVar RCV002240956
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.61
- SIFT 0.51
- MutPred 0.09
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial thoracic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.243