A47V (p.Ala47Val) variant of STAT2 (P52630)
A47V (p.Ala47Val) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- ExAC rs758442457
- gnomAD rs758442457
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available