P33S (p.Pro33Ser) variant of CBS (Cystathionine beta-synthase)
P33S (p.Pro33Ser) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- 1000Genomes rs563211474
- ExAC rs563211474
- gnomAD rs563211474
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Familial thoracic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Fam)
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6: score 0.0252