P7S (p.Pro7Ser) variant of FGG (Fibrinogen gamma chain)
P7S (p.Pro7Ser) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital afibrinogenemia; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs374845868
- ClinGen CA3115777
- ClinVar RCV000326075
- ClinVar RCV002520217
- Uncertain significance
- Congenital afibrinogenemia; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.04
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Congenital afibrinogenemia; not provided; Inborn genetic disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)