Q67L (p.Gln67Leu) variant of STAT4 (Q14765)
Q67L (p.Gln67Leu) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q67L (p.Gln67Leu) variant details
- p.Gln67Leu
- gnomAD rs1444276228
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- MetaLR 0.19
- MetaSVM -0.68
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available