S23T (p.Ser23Thr) variant of CBS (Cystathionine beta-synthase)
S23T (p.Ser23Thr) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- gnomAD rs1378750597
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available
- CBS low-B6 imputed and refined: score 0.0696