D16V (p.Asp16Val) variant of STAT2 (P52630)
D16V (p.Asp16Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- ExAC rs761370532
- TOPMed rs761370532
- gnomAD rs761370532
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.22
- CADD 28.60
- PolyPhen-2 0.70
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available