R70P (p.Arg70Pro) variant of STAT1 (P42224)
R70P (p.Arg70Pro) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
R70P (p.Arg70Pro) variant details
- p.Arg70Pro
- rs1574672718
- ClinGen CA349927973
- ClinVar RCV001027622
- Ensembl rs1574672718
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.21
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available