V143M (p.Val143Met) variant of STAT4 (Q14765)
V143M (p.Val143Met) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data and structural context.
V143M (p.Val143Met) variant details
- p.Val143Met
- rs370819441
- ClinGen CA2030886
- ClinVar RCV003086031
- ESP rs370819441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.04
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00018)
- Structural context available