I163V (p.Ile163Val) variant of STAT2 (P52630)
I163V (p.Ile163Val) 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 0.04 / 1. The record also includes population frequency data and structural context.
I163V (p.Ile163Val) variant details
- p.Ile163Val
- rs756904021
- ClinGen CA6630850
- ClinVar RCV002889470
- ExAC rs756904021
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0417
- REVEL 0.03
- CADD 1.12
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available