E54K (p.Glu54Lys) variant of TBP (TATA-box-binding protein)
E54K (p.Glu54Lys) in TBP (TATA-box-binding protein) 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 0.50 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1190072930
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- NCI-TCGA Cosmic COSV5783
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available