T295K (p.Thr295Lys) variant of STAT1 (P42224)
T295K (p.Thr295Lys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chronic mucocutaneous candidiasis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
T295K (p.Thr295Lys) variant details
- p.Thr295Lys
- rs2125062092
- ClinGen CA349921645
- ClinVar RCV001667870
- Ensembl rs2125062092
- Pathogenic
- Chronic mucocutaneous candidiasis
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.21
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.21
- EVE 0.22
- ClinVar: Pathogenic (Chronic mucocutaneous candidiasis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available