R5K (p.Arg5Lys) variant of FGA (Fibrinogen alpha chain)
R5K (p.Arg5Lys) 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 Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- ESP rs370674653
- ExAC rs370674653
- TOPMed rs370674653
- gnomAD rs370674653
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0938
- REVEL 0.04
- CADD 11.30
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.2e-05)