T53I (p.Thr53Ile) variant of CBS (Cystathionine beta-synthase)
T53I (p.Thr53Ile) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- Ensembl rs564501381
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- Structural context available
- CBS high-B6 imputed and refined: score 0.681