P28L (p.Pro28Leu) variant of STAT2 (P52630)
P28L (p.Pro28Leu) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs2547270636
- NCI-TCGA Cosmic COSV5847
- cosmic curated COSV58475
- ClinGen CA385264167
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.73
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available