L92F (p.Leu92Phe) variant of FGG (Fibrinogen gamma chain)
L92F (p.Leu92Phe) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital afibrinogenemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- rs142286849
- ClinGen CA3115705
- ClinVar RCV000289840
- ClinVar RCV004754406
- Likely benign
- Congenital afibrinogenemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Likely benign (Congenital afibrinogenemia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available