A46S (p.Ala46Ser) variant of STAT1 (P42224)
A46S (p.Ala46Ser) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- ExAC rs781389511
- gnomAD rs781389511
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.31
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available