V12L (p.Val12Leu) variant of IRF7 (Interferon regulatory factor 7)
V12L (p.Val12Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- rs746593118
- ClinGen CA378985025
- ClinVar RCV001915518
- ExAC rs746593118
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.27
- MetaLR 0.78
- MetaSVM 0.13
- CADD 2.32
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available