S19L (p.Ser19Leu) variant of CBS (Cystathionine beta-synthase)
S19L (p.Ser19Leu) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs764399291
- ClinGen CA321104095
- ClinVar RCV002982353
- ExAC rs764399291
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.60
- SIFT 0.38
- MutPred 0.15
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.82