P78R (p.Pro78Arg) variant of STAT2 (P52630)
P78R (p.Pro78Arg) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P78R (p.Pro78Arg) variant details
- p.Pro78Arg
- ExAC rs774830295
- TOPMed rs774830295
- gnomAD rs774830295
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 20.40
- PolyPhen-2 0.63
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available