R336L (p.Arg336Leu) variant of CBS (Cystathionine beta-synthase)
R336L (p.Arg336Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements and structural context.
R336L (p.Arg336Leu) variant details
- p.Arg336Leu
- rs760417941
- ClinGen CA410599797
- ClinVar RCV003598643
- ClinVar RCV005433451
- Conflicting interpretations
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.85
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specified)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0357