D25E (p.Asp25Glu) variant of CUX1 (Homeobox protein cut-like 1)
D25E (p.Asp25Glu) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- ExAC rs778447580
- gnomAD rs778447580
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -1.00
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.295