R23Q (p.Arg23Gln) variant of CUX1 (Homeobox protein cut-like 1)
R23Q (p.Arg23Gln) 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 Global developmental delay with or without impaired intellectual development. 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.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- gnomAD rs1280730199
- Uncertain significance
- Global developmental delay with or without impaired intellectual development
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.31
- MetaLR 0.17
- MetaSVM -0.87
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Global developmental delay with or without impaired intellectual)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.358