H67Y (p.His67Tyr) variant of CBS (Cystathionine beta-synthase)
H67Y (p.His67Tyr) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes experimental measurements and structural context.
H67Y (p.His67Tyr) variant details
- p.His67Tyr
- gnomAD rs1248573959
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- ESM-1b 0.04
- AlphaMissense 0.10
- Structural context available
- CBS low-B6: score 0.309