V123F (p.Val123Phe) variant of STAT4 (Q14765)
V123F (p.Val123Phe) 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 0.45 / 1. The record also includes structural context.
V123F (p.Val123Phe) variant details
- p.Val123Phe
- rs1697314886
- ClinGen CA349920352
- ClinVar RCV003695450
- Ensembl rs1697314886
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.38
- PolyPhen-2 0.47
- SIFT 0.05
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available