E183K (p.Glu183Lys) variant of STAT1 (P42224)
E183K (p.Glu183Lys) in STAT1 (P42224) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E183K (p.Glu183Lys) variant details
- p.Glu183Lys
- rs1430662949
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- TOPMed rs1430662949
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available