P145R (p.Pro145Arg) variant of CBS (Cystathionine beta-synthase)
P145R (p.Pro145Arg) 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 0.95 / 1. The record also includes experimental measurements and structural context.
P145R (p.Pro145Arg) variant details
- p.Pro145Arg
- rs121964963
- ClinGen CA410601659
- ClinVar RCV003495354
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0851