P101S (p.Pro101Ser) variant of STAT2 (P52630)
P101S (p.Pro101Ser) 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 0.25 / 1. The record also includes population frequency data and structural context.
P101S (p.Pro101Ser) variant details
- p.Pro101Ser
- rs768555442
- ClinGen CA6630900
- cosmic curated COSV10519
- ClinVar RCV002899611
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- CADD 14.70
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available