P6S (p.Pro6Ser) variant of CBS (Cystathionine beta-synthase)
P6S (p.Pro6Ser) 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.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- 1000Genomes rs528184368
- ExAC rs528184368
- gnomAD rs528184368
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available
- CBS low-B6 imputed and refined: score 0.723