I29S (p.Ile29Ser) variant of IRF4 (Interferon regulatory factor 4)
I29S (p.Ile29Ser) 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 0.83 / 1. The record also includes population frequency data and structural context.
I29S (p.Ile29Ser) variant details
- p.Ile29Ser
- rs1761165092
- ClinGen CA362546397
- ClinVar RCV001968221
- TOPMed rs1761165092
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available