L101V (p.Leu101Val) variant of CBS (Cystathionine beta-synthase)
L101V (p.Leu101Val) 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 provided; Classic homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L101V (p.Leu101Val) variant details
- p.Leu101Val
- rs369644531
- ClinGen CA10653007
- ClinVar RCV000310277
- ClinVar RCV002510881
- Conflicting interpretations
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Classic homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 17.00
- PolyPhen-2 0.24
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Cla)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00054)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0037
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)