K152E (p.Lys152Glu) variant of STAT1 (P42224)
K152E (p.Lys152Glu) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K152E (p.Lys152Glu) variant details
- p.Lys152Glu
- gnomAD rs1243375266
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.68
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available