A158T (p.Ala158Thr) variant of CBS (Cystathionine beta-synthase)
A158T (p.Ala158Thr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes experimental measurements and structural context.
A158T (p.Ala158Thr) variant details
- p.Ala158Thr
- rs2517447876
- ClinGen CA410601481
- ClinVar RCV003598372
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- ESM-1b 1.00
- AlphaMissense 0.50
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.26