R123H (p.Arg123His) variant of FGA (Fibrinogen alpha chain)
R123H (p.Arg123His) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R123H (p.Arg123His) variant details
- p.Arg123His
- cosmic curated COSV57398
- ExAC rs745581691
- TOPMed rs745581691
- gnomAD rs745581691
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 7.40
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)