N97K (p.Asn97Lys) variant of STAT4 (Q14765)
N97K (p.Asn97Lys) 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 0.38 / 1. The record also includes structural context.
N97K (p.Asn97Lys) variant details
- p.Asn97Lys
- rs1559055945
- ClinGen CA349920596
- ClinVar RCV003556887
- Ensembl rs1559055945
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.42
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.97
- SIFT 0.67
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available