D16A (p.Asp16Ala) variant of STAT2 (P52630)
D16A (p.Asp16Ala) in STAT2 (P52630) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- ExAC rs761370532
- TOPMed rs761370532
- gnomAD rs761370532
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.13
- CADD 24.30
- PolyPhen-2 0.34
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available