S20N (p.Ser20Asn) variant of IRF8 (Interferon regulatory factor 8)
S20N (p.Ser20Asn) 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 Inborn genetic diseases; Immunodeficiency 32B; Mendelian susceptibility to mycob. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- rs377070739
- ClinGen CA8216729
- ClinVar RCV003789937
- ESP rs377070739
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 32B; Mendelian susceptibility to mycob
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.76
- CADD 28.00
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 32B; Mendelian suscept)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available