A46S (p.Ala46Ser) variant of STAT4 (Q14765)
A46S (p.Ala46Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs2471010207
- ClinGen CA350002685
- ClinVar RCV002933561
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- MetaLR 0.32
- MetaSVM -0.46
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available