P81L (p.Pro81Leu) variant of IRF7 (Interferon regulatory factor 7)
P81L (p.Pro81Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs752325699
- ClinGen CA5784028
- ClinVar RCV001917913
- ExAC rs752325699
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.09
- PolyPhen-2 0.36
- SIFT 0.09
- MutPred 0.41
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available