R399H (p.Arg399His) variant of SATB2 (DNA-binding protein SATB2)
R399H (p.Arg399His) 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 not provided; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
R399H (p.Arg399His) variant details
- p.Arg399His
- rs1057518190
- ClinGen CA16042431
- NCI-TCGA Cosmic COSV5348
- cosmic curated COSV53480
- Pathogenic/Likely pathogenic
- not provided; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.0205
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)