V29E (p.Val29Glu) variant of STAT2 (P52630)
V29E (p.Val29Glu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V29E (p.Val29Glu) variant details
- p.Val29Glu
- ExAC rs779641230
- gnomAD rs779641230
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.35
- CADD 25.80
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available