K146Q (p.Lys146Gln) variant of STAT4 (Q14765)
K146Q (p.Lys146Gln) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K146Q (p.Lys146Gln) variant details
- p.Lys146Gln
- rs2470798342
- ClinGen CA349919547
- ClinVar RCV004465510
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- MetaLR 0.23
- MetaSVM -0.60
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available