R87K (p.Arg87Lys) variant of STAT4 (Q14765)
R87K (p.Arg87Lys) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R87K (p.Arg87Lys) variant details
- p.Arg87Lys
- rs202184860
- ClinGen CA2030966
- ClinVar RCV001988114
- ClinVar RCV004043802
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.02
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available