R46W (p.Arg46Trp) variant of SATB2 (DNA-binding protein SATB2)
R46W (p.Arg46Trp) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- cosmic curated COSV53478
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- UniProt: Uncertain significance
- Structural context available