M107V (p.Met107Val) variant of IRF7 (Interferon regulatory factor 7)
M107V (p.Met107Val) 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 0.42 / 1. The record also includes population frequency data and structural context.
M107V (p.Met107Val) variant details
- p.Met107Val
- rs2133147870
- ClinGen CA378983092
- ClinVar RCV001971247
- Ensembl rs2133147870
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.51
- AlphaMissense 0.51
- MetaLR 0.78
- MetaSVM 0.19
- CADD 13.80
- PolyPhen-2 0.31
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available