R114K (p.Arg114Lys) variant of FGA (Fibrinogen alpha chain)
R114K (p.Arg114Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
R114K (p.Arg114Lys) variant details
- p.Arg114Lys
- rs750694816
- ClinGen CA108762932
- ClinVar RCV002470121
- TOPMed rs750694816
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.15
- CADD 14.80
- PolyPhen-2 0.14
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)