P88R (p.Pro88Arg) variant of CBS (Cystathionine beta-synthase)
P88R (p.Pro88Arg) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements and structural context.
P88R (p.Pro88Arg) variant details
- p.Pro88Arg
- rs2517469721
- ClinGen CA410602095
- ClinVar RCV003496394
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.83
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS high-B6: score 0.277