P88S (p.Pro88Ser) variant of CBS (Cystathionine beta-synthase)
P88S (p.Pro88Ser) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- rs2146413970
- ClinGen CA410602097
- cosmic curated COSV10466
- ClinVar RCV002242808
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 1.00
- MetaSVM 0.90
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6: score 0.277
- Cited in: The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of… (PMID 7762555)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)