C15F (p.Cys15Phe) variant of CBS (Cystathionine beta-synthase)
C15F (p.Cys15Phe) 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.
C15F (p.Cys15Phe) variant details
- p.Cys15Phe
- ExAC rs750850447
- gnomAD rs750850447
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available
- CBS low-B6 imputed and refined: score 0.268