T5A (p.Thr5Ala) variant of CBS (Cystathionine beta-synthase)
T5A (p.Thr5Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- rs2146429088
- ClinGen CA410602621
- ClinVar RCV001950186
- ClinVar RCV005241478
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.92
- MetaSVM 0.70
- SIFT 0.27
- MutPred 0.06
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.8