S27I (p.Ser27Ile) variant of CBS (Cystathionine beta-synthase)
S27I (p.Ser27Ile) 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.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- ExAC rs771748290
- gnomAD rs771748290
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available
- CBS high-B6: score 0.538