R399C (p.Arg399Cys) variant of SATB2 (DNA-binding protein SATB2)
R399C (p.Arg399Cys) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Chromosome 2q32-q33 deletion syndrome; SATB2 associated disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R399C (p.Arg399Cys) variant details
- p.Arg399Cys
- rs1574511051
- ClinGen CA350386546
- cosmic curated COSV10961
- ClinVar RCV000820157
- Pathogenic/Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome; SATB2 associated disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Chromosome 2q32-q33 deletion syndrome; SATB2 associated disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.0205
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)