L27P (p.Leu27Pro) variant of FGB (Fibrinogen beta chain)
L27P (p.Leu27Pro) 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 not provided; Inborn genetic diseases; Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs1442627097
- ClinGen CA358507657
- ClinVar RCV001147193
- ClinVar RCV006372152
- Uncertain significance
- not provided; Inborn genetic diseases; Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- CADD 16.50
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Congenital afibrinogenemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- 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)