R389L (p.Arg389Leu) variant of SATB2 (DNA-binding protein SATB2)
R389L (p.Arg389Leu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R389L (p.Arg389Leu) variant details
- p.Arg389Leu
- rs1247886882
- ClinGen CA350387025
- ClinVar RCV002052116
- ClinVar RCV006558331
- Pathogenic
- Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.50
- MetaSVM 0.01
- CADD 27.90
- ClinVar: Pathogenic (Chromosome 2q32-q33 deletion syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.267
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)