E138A (p.Glu138Ala) variant of STAT4 (Q14765)
E138A (p.Glu138Ala) in STAT4 (Q14765) is a missense change. 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.
E138A (p.Glu138Ala) variant details
- p.Glu138Ala
- Ensembl rs1697214448
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.32
- MetaLR 0.41
- MetaSVM -0.15
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available