P80L (p.Pro80Leu) variant of IRF7 (Interferon regulatory factor 7)
P80L (p.Pro80Leu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs2493942461
- ClinGen CA378983417
- ClinVar RCV004403274
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.13
- CADD 6.44
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available