R254S (p.Arg254Ser) variant of CUX1 (Homeobox protein cut-like 1)
R254S (p.Arg254Ser) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R254S (p.Arg254Ser) variant details
- p.Arg254Ser
- rs2131685158
- ClinGen CA368664608
- ClinVar RCV002468677
- Likely pathogenic
- Global developmental delay with or without impaired intellectual development
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.21
- MetaLR 0.51
- MetaSVM -0.12
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Likely pathogenic (Global developmental delay with or without impaired intellectual)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. (PMID 37644171)