A89V (p.Ala89Val) variant of IRF7 (Interferon regulatory factor 7)
A89V (p.Ala89Val) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- rs748572013
- ClinGen CA5783898
- cosmic curated COSV52757
- ClinVar RCV003750313
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.13
- MetaLR 0.83
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.23
- MutPred 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available