D100G (p.Asp100Gly) variant of STAT2 (P52630)
D100G (p.Asp100Gly) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- ExAC rs774417394
- TOPMed rs774417394
- gnomAD rs774417394
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.02
- CADD 7.93
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available