L87F (p.Leu87Phe) variant of STAT2 (P52630)
L87F (p.Leu87Phe) 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 0.17 / 1. The record also includes population frequency data and structural context.
L87F (p.Leu87Phe) variant details
- p.Leu87Phe
- rs2547269607
- ClinGen CA385263743
- ClinVar RCV002297535
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 14.30
- PolyPhen-2 0.09
- SIFT 0.20
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available