H65L (p.His65Leu) variant of CBS (Cystathionine beta-synthase)
H65L (p.His65Leu) 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 0.57 / 1. The record also includes experimental measurements and structural context.
H65L (p.His65Leu) variant details
- p.His65Leu
- rs1191141364
- ClinGen CA410602252
- ClinVar RCV003597752
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.96
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.69
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0