N5S (p.Asn5Ser) variant of IRF8 (Interferon regulatory factor 8)
N5S (p.Asn5Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- Ensembl rs1834775112
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.34
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.43
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-05)
- Structural context available