M155V (p.Met155Val) variant of STAT2 (P52630)
M155V (p.Met155Val) 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.
M155V (p.Met155Val) variant details
- p.Met155Val
- rs1473365042
- ClinGen CA385263264
- ClinVar RCV002571638
- gnomAD rs1473365042
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.05
- CADD 13.70
- PolyPhen-2 0.06
- 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 Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available