V172I (p.Val172Ile) variant of STAT2 (P52630)
V172I (p.Val172Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
V172I (p.Val172Ile) variant details
- p.Val172Ile
- rs945706789
- ClinGen CA237655057
- ClinVar RCV002640721
- TOPMed rs945706789
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available