V37F (p.Val37Phe) variant of STAT2 (P52630)
V37F (p.Val37Phe) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V37F (p.Val37Phe) variant details
- p.Val37Phe
- rs144812882
- ClinGen CA6630959
- ClinVar RCV000690233
- 1000Genomes rs144812882
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.12
- CADD 11.30
- PolyPhen-2 0.44
- SIFT 0.69
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available