P78L (p.Pro78Leu) variant of STAT2 (P52630)
P78L (p.Pro78Leu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- cosmic curated COSV10738
- ExAC rs774830295
- TOPMed rs774830295
- gnomAD rs774830295
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- CADD 21.70
- PolyPhen-2 0.51
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available