T18M (p.Thr18Met) variant of CUX1 (Homeobox protein cut-like 1)
T18M (p.Thr18Met) in CUX1 (Homeobox protein cut-like 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T18M (p.Thr18Met) variant details
- p.Thr18Met
- rs1804171761
- ClinGen CA368909475
- cosmic curated COSV99473
- ClinVar RCV002265069
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.25
- MetaLR 0.16
- MetaSVM -0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.527