F99S (p.Phe99Ser) variant of CBS (Cystathionine beta-synthase)
F99S (p.Phe99Ser) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F99S (p.Phe99Ser) variant details
- p.Phe99Ser
- rs112029370
- ClinGen CA410602019
- ClinVar RCV002048663
- ESP rs112029370
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 15.10
- PolyPhen-2 0.09
- SIFT 0.26
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.12)
- Structural context available
- CBS high-B6 imputed and refined: score 0.403