A73V (p.Ala73Val) variant of IRF8 (Interferon regulatory factor 8)
A73V (p.Ala73Val) 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 0.75 / 1. The record also includes population frequency data and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs771805067
- ClinGen CA8216786
- ClinVar RCV001366045
- ExAC rs771805067
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available