D100V (p.Asp100Val) variant of STAT2 (P52630)
D100V (p.Asp100Val) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D100V (p.Asp100Val) variant details
- p.Asp100Val
- ExAC rs774417394
- TOPMed rs774417394
- gnomAD rs774417394
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- CADD 17.30
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available