L539S (p.Leu539Ser) variant of CBS (Cystathionine beta-synthase)
L539S (p.Leu539Ser) 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 Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L539S (p.Leu539Ser) variant details
- p.Leu539Ser
- rs121964968
- ClinGen CA113889
- ClinVar RCV000000146
- ClinVar RCV000675072
- Likely pathogenic
- Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- ClinVar: Likely pathogenic (Homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.276
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)
- Cited in: Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French… (PMID 8990018)