D137E (p.Asp137Glu) variant of STAT1 (P42224)
D137E (p.Asp137Glu) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D137E (p.Asp137Glu) variant details
- p.Asp137Glu
- 1000Genomes rs535073025
- ExAC rs535073025
- gnomAD rs535073025
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available