L338P (p.Leu338Pro) variant of CBS (Cystathionine beta-synthase)
L338P (p.Leu338Pro) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
L338P (p.Leu338Pro) variant details
- p.Leu338Pro
- rs2517424483
- ClinGen CA410599787
- ClinVar RCV003064631
- UniProt VAR 021797
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Classic homocysti)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.351
- Cited in: Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and… (PMID 12815602)
- Cited in: Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. (PMID 16429402)