D116N (p.Asp116Asn) variant of FGA (Fibrinogen alpha chain)
D116N (p.Asp116Asn) 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 Congenital afibrinogenemia; Familial visceral amyloidosis, Ostertag type; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
D116N (p.Asp116Asn) variant details
- p.Asp116Asn
- rs886059153
- ClinGen CA10620260
- cosmic curated COSV57400
- ClinVar RCV000305519
- Uncertain significance
- Congenital afibrinogenemia; Familial visceral amyloidosis, Ostertag type; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.17
- CADD 11.10
- PolyPhen-2 0.02
- SIFT 0.42
- ClinVar: Uncertain significance (Congenital afibrinogenemia; Familial visceral amyloidosis, Oster)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)