A2T (p.Ala2Thr) variant of STAT2 (P52630)
A2T (p.Ala2Thr) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs1879543672
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available