G7D (p.Gly7Asp) variant of IRF4 (Interferon regulatory factor 4)
G7D (p.Gly7Asp) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs769695946
- ClinGen CA3612604
- ClinVar RCV001901182
- ExAC rs769695946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00017)
- Structural context available