A45T (p.Ala45Thr) variant of STAT4 (Q14765)
A45T (p.Ala45Thr) 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 0.25 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs2471010215
- ClinGen CA350002693
- ClinVar RCV002638886
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.08
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available