D16G (p.Asp16Gly) variant of STAT2 (P52630)
D16G (p.Asp16Gly) 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 0.32 / 1. The record also includes population frequency data and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs761370532
- ClinGen CA6630967
- ClinVar RCV001070160
- ExAC rs761370532
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- CADD 25.10
- PolyPhen-2 0.34
- SIFT 0.01
- 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 4.8e-05)
- Structural context available