F99Y (p.Phe99Tyr) variant of CBS (Cystathionine beta-synthase)
F99Y (p.Phe99Tyr) 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; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specifi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F99Y (p.Phe99Tyr) variant details
- p.Phe99Tyr
- rs112029370
- ClinGen CA16616548
- ClinVar RCV000459701
- ClinVar RCV000497848
- Conflicting interpretations
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not specifi
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.71
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Conflicting classifications of pathogenicity (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00098)
- Structural context available
- CBS high-B6 imputed and refined: score 0.403
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)