S34N (p.Ser34Asn) variant of IRF8 (Interferon regulatory factor 8)
S34N (p.Ser34Asn) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- rs1904879589
- ClinGen CA397000273
- cosmic curated COSV51898
- ClinVar RCV001206359
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- CADD 14.90
- PolyPhen-2 0.05
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available