P137L (p.Pro137Leu) variant of STAT2 (P52630)
P137L (p.Pro137Leu) in STAT2 (P52630) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P137L (p.Pro137Leu) variant details
- p.Pro137Leu
- NCI-TCGA Cosmic COSV5847
- TOPMed rs1879364569
- gnomAD rs1879364569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.11
- CADD 15.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available