I112N (p.Ile112Asn) variant of FGA (Fibrinogen alpha chain)
I112N (p.Ile112Asn) in FGA (Fibrinogen alpha 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.
I112N (p.Ile112Asn) variant details
- p.Ile112Asn
- ExAC rs774951769
- TOPMed rs774951769
- gnomAD rs774951769
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.13
- CADD 11.10
- PolyPhen-2 0.27
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)