F99L (p.Phe99Leu) variant of CBS (Cystathionine beta-synthase)
F99L (p.Phe99Leu) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements and structural context.
F99L (p.Phe99Leu) variant details
- p.Phe99Leu
- rs749697783
- ClinGen CA10583890
- ClinVar RCV001854831
- ExAC rs749697783
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- ESM-1b 0.05
- AlphaMissense 0.66
- MetaLR 0.72
- MetaSVM 0.29
- SIFT 0.61
- MutPred 0.30
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- CBS high-B6 imputed and refined: score 0.403