I72N (p.Ile72Asn) variant of FGG (Fibrinogen gamma chain)
I72N (p.Ile72Asn) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I72N (p.Ile72Asn) variant details
- p.Ile72Asn
- TOPMed rs1180609835
- gnomAD rs1180609835
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.22
- CADD 15.20
- PolyPhen-2 0.14
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available