R33W (p.Arg33Trp) variant of CUX1 (Homeobox protein cut-like 1)
R33W (p.Arg33Trp) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs771176824
- ClinGen CA163802516
- cosmic curated COSV52900
- ClinVar RCV002282848
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- MetaLR 0.20
- MetaSVM -0.75
- CADD 27.60
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -1.16