K388Q (p.Lys388Gln) variant of STAT1 (P42224)
K388Q (p.Lys388Gln) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
K388Q (p.Lys388Gln) variant details
- p.Lys388Gln
- rs1559011859
- ClinGen CA349919101
- ClinVar RCV000701663
- Ensembl rs1559011859
- Pathogenic
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.71
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available