E36K (p.Glu36Lys) variant of CUX1 (Homeobox protein cut-like 1)
E36K (p.Glu36Lys) in CUX1 (Homeobox protein cut-like 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs1404930496
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52894
- TOPMed rs1404930496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.30
- MetaLR 0.34
- MetaSVM -0.34
- CADD 29.80
- PolyPhen-2 0.57
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.45