E85V (p.Glu85Val) variant of STAT6 (P42226)
E85V (p.Glu85Val) in STAT6 (P42226) 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.
E85V (p.Glu85Val) variant details
- p.Glu85Val
- Ensembl rs2034356062
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.25
- CADD 34.00
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available