V104F (p.Val104Phe) variant of STAT4 (Q14765)
V104F (p.Val104Phe) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V104F (p.Val104Phe) variant details
- p.Val104Phe
- ExAC rs756625612
- gnomAD rs756625612
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.27
- MetaLR 0.21
- MetaSVM -0.74
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available