K173I (p.Lys173Ile) variant of STAT1 (P42224)
K173I (p.Lys173Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
K173I (p.Lys173Ile) variant details
- p.Lys173Ile
- rs1553497886
- ClinGen CA349924383
- ClinVar RCV000522452
- Ensembl rs1553497886
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.81
- MetaLR 0.45
- MetaSVM -0.13
- PolyPhen-2 0.88
- SIFT 0.01
- EVE 0.38
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available