C108S (p.Cys108Ser) variant of STAT4 (Q14765)
C108S (p.Cys108Ser) 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 0.55 / 1. The record also includes population frequency data and structural context.
C108S (p.Cys108Ser) variant details
- p.Cys108Ser
- rs1697316431
- ClinGen CA349920525
- ClinVar RCV002613609
- Ensembl rs1697316431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- MetaLR 0.33
- MetaSVM -0.37
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.05
- 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