A38T (p.Ala38Thr) variant of CBS (Cystathionine beta-synthase)
A38T (p.Ala38Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes experimental measurements and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs1064795253
- ClinGen CA16621018
- ClinVar RCV000483422
- gnomAD rs1064795253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.81
- SIFT 0.27
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.155