T191M (p.Thr191Met) variant of CBS (Cystathionine beta-synthase)
T191M (p.Thr191Met) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T191M (p.Thr191Met) variant details
- p.Thr191Met
- rs121964973
- ClinGen CA113904
- ClinVar RCV000000155
- ClinVar RCV000195441
- Conflicting interpretations
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.60
- ClinVar: Conflicting classifications of pathogenicity (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Cla)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Latino/Admixed American population (allele frequency 0.00075)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0549
- Cited in: Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and… (PMID 12815602)
- Cited in: Molecular analysis of homocystinuria in Brazilian patients. (PMID 15993874)