T5N (p.Thr5Asn) variant of CBS (Cystathionine beta-synthase)
T5N (p.Thr5Asn) 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 0.27 / 1. The record also includes experimental measurements and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- rs2517484287
- ClinGen CA410602619
- ClinVar RCV003093071
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.8