L105V (p.Leu105Val) variant of CBS (Cystathionine beta-synthase)
L105V (p.Leu105Val) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L105V (p.Leu105Val) variant details
- p.Leu105Val
- rs1601375543
- ClinGen CA410601983
- ClinVar RCV000794312
- ClinVar RCV002233864
- Uncertain significance
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.56
- ClinVar: Uncertain significance (Classic homocystinuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0841
- 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)