S27R (p.Ser27Arg) variant of CBS (Cystathionine beta-synthase)
S27R (p.Ser27Arg) 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.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- 1000Genomes rs530296903
- ExAC rs530296903
- gnomAD rs530296903
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.12
- Structural context available
- CBS high-B6: score 0.538