W43C (p.Trp43Cys) variant of CBS (Cystathionine beta-synthase)
W43C (p.Trp43Cys) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes experimental measurements and structural context.
W43C (p.Trp43Cys) variant details
- p.Trp43Cys
- gnomAD rs1375321603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- ESM-1b 0.00
- AlphaMissense 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0