K2E (p.Lys2Glu) variant of FGB (Fibrinogen beta chain)
K2E (p.Lys2Glu) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K2E (p.Lys2Glu) variant details
- p.Lys2Glu
- rs6053
- ClinGen CA3114423
- ClinVar RCV000307288
- ClinVar RCV003556357
- Uncertain significance
- Inborn genetic diseases; not provided; Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.15
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Congenital afibrinogenemi)
- EBI: Variant of uncertain significance (in dbSNP:rs6053)
- UniProt: Uncertain significance (in dbSNP:rs6053)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)