L540Q (p.Leu540Gln) variant of CBS (Cystathionine beta-synthase)
L540Q (p.Leu540Gln) 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 Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
L540Q (p.Leu540Gln) variant details
- p.Leu540Gln
- UniProt VAR 074595
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- ESM-1b 1.00
- AlphaMissense 0.80
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0562
- Cited in: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional… (PMID 23974653)
- Cited in: Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. (PMID 25044645)