R389H (p.Arg389His) variant of SATB2 (DNA-binding protein SATB2)
R389H (p.Arg389His) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodevelopmental disorder; Inborn genetic diseases; Chromosome 2q32-q33 deleti. 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.
R389H (p.Arg389His) variant details
- p.Arg389His
- rs1247886882
- ClinGen CA350387027
- NCI-TCGA Cosmic COSV5347
- cosmic curated COSV53478
- Conflicting interpretations
- Neurodevelopmental disorder; Inborn genetic diseases; Chromosome 2q32-q33 deleti
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.50
- MetaSVM 0.01
- CADD 28.30
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder; Inborn genetic diseases; Chromosome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.267
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)