R44C (p.Arg44Cys) variant of SATB2 (DNA-binding protein SATB2)
R44C (p.Arg44Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- cosmic curated COSV53478
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome; not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available