A118T (p.Ala118Thr) variant of STAT4 (Q14765)
A118T (p.Ala118Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
A118T (p.Ala118Thr) variant details
- p.Ala118Thr
- rs372012413
- ClinGen CA2030919
- ClinVar RCV001891935
- ESP rs372012413
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.04
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available