P49L (p.Pro49Leu) variant of CBS (Cystathionine beta-synthase)
P49L (p.Pro49Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBS-related disorder; Autosomal recessive CBS-related disorders; Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs148865119
- ClinGen CA325105
- cosmic curated COSV10526
- ClinVar RCV000200523
- Pathogenic/Likely pathogenic
- CBS-related disorder; Autosomal recessive CBS-related disorders; Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.98
- MetaSVM 1.09
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Autosomal recessive CBS-related disorders;)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.253
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)