L52M (p.Leu52Met) variant of IRF7 (Interferon regulatory factor 7)
L52M (p.Leu52Met) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L52M (p.Leu52Met) variant details
- p.Leu52Met
- TOPMed rs1180965387
- gnomAD rs1180965387
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.37
- MetaLR 0.92
- MetaSVM 0.79
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available