E78K (p.Glu78Lys) variant of STAT5B (P51692)
E78K (p.Glu78Lys) in STAT5B (P51692) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- NCI-TCGA Cosmic COSV5318
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.23
- CADD 26.80
- PolyPhen-2 0.61
- SIFT 0.02
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available