A181V (p.Ala181Val) variant of STAT2 (P52630)
A181V (p.Ala181Val) 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.
A181V (p.Ala181Val) variant details
- p.Ala181Val
- rs760935390
- ClinGen CA6630841
- ClinVar RCV003079358
- ExAC rs760935390
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0444
- REVEL 0.03
- CADD 0.16
- PolyPhen-2 0.00
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available