V143L (p.Val143Leu) variant of STAT4 (Q14765)
V143L (p.Val143Leu) in STAT4 (Q14765) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V143L (p.Val143Leu) variant details
- p.Val143Leu
- ESP rs370819441
- ExAC rs370819441
- TOPMed rs370819441
- gnomAD rs370819441
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -0.97
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available