E44K (p.Glu44Lys) variant of STAT4 (Q14765)
E44K (p.Glu44Lys) in STAT4 (Q14765) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- cosmic curated COSV10526
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.90
- CADD 24.90
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available