R429Q (p.Arg429Gln) variant of SATB2 (DNA-binding protein SATB2)
R429Q (p.Arg429Gln) 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 SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R429Q (p.Arg429Gln) variant details
- p.Arg429Gln
- rs886041516
- ClinGen CA10602850
- ClinVar RCV000300452
- ClinVar RCV000708556
- Pathogenic
- SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (SATB2-related disorder; Chromosome 2q32-q33 deletion syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.934
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)