A86V (p.Ala86Val) variant of IRF7 (Interferon regulatory factor 7)
A86V (p.Ala86Val) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39; not specified. 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.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- rs771414323
- ClinGen CA5784022
- cosmic curated COSV52763
- ClinVar RCV001224394
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM -0.04
- CADD 13.20
- PolyPhen-2 0.93
- SIFT 0.25
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available