A148T (p.Ala148Thr) variant of STAT4 (Q14765)
A148T (p.Ala148Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
A148T (p.Ala148Thr) variant details
- p.Ala148Thr
- rs747495835
- ClinGen CA349919533
- ClinVar RCV003440113
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.09
- CADD 15.40
- PolyPhen-2 0.27
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available