L92P (p.Leu92Pro) variant of FGG (Fibrinogen gamma chain)
L92P (p.Leu92Pro) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs766605366
- ClinGen CA3115703
- ClinVar RCV003378196
- ClinVar RCV005104078
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.16
- CADD 8.08
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)