T18S (p.Thr18Ser) variant of CUX1 (Homeobox protein cut-like 1)
T18S (p.Thr18Ser) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign 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 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- gnomAD rs1376583186
- Likely benign
- Global developmental delay with or without impaired intellectual development
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- AlphaMissense 0.27
- MetaLR 0.11
- MetaSVM -1.05
- CADD 23.30
- PolyPhen-2 1.00
- ClinVar: Likely benign (Global developmental delay with or without impaired intellectual)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.527