K33R (p.Lys33Arg) variant of IRF8 (Interferon regulatory factor 8)
K33R (p.Lys33Arg) 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 0.57 / 1. The record also includes population frequency data and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- rs770905943
- ClinGen CA8216741
- cosmic curated COSV51897
- ClinVar RCV003808407
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.43
- SIFT 0.23
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available