L111F (p.Leu111Phe) variant of STAT2 (P52630)
L111F (p.Leu111Phe) 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 0.29 / 1. The record also includes population frequency data and structural context.
L111F (p.Leu111Phe) variant details
- p.Leu111Phe
- rs199890161
- ClinGen CA6630897
- ClinVar RCV000698784
- 1000Genomes rs199890161
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.28
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available