P38S (p.Pro38Ser) variant of IRF4 (Interferon regulatory factor 4)
P38S (p.Pro38Ser) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs369688140
- ClinGen CA3612612
- ClinVar RCV002595110
- ESP rs369688140
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.78
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available