H100R (p.His100Arg) variant of STAT4 (Q14765)
H100R (p.His100Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
H100R (p.His100Arg) variant details
- p.His100Arg
- rs1267779076
- ClinGen CA349920576
- ClinVar RCV002583913
- gnomAD rs1267779076
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.07
- MetaSVM -1.04
- CADD 19.90
- PolyPhen-2 0.14
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available