E34K (p.Glu34Lys) variant of SPI1 (Transcription factor PU.1)
E34K (p.Glu34Lys) in SPI1 (Transcription factor PU.1) 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 0.33 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57045
- Ensembl rs2095941337
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.01
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available