T54A (p.Thr54Ala) variant of STAT4 (Q14765)
T54A (p.Thr54Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- rs1699470596
- ClinGen CA350002630
- ClinVar RCV003723734
- Ensembl rs1699470596
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available