Q409R (p.Gln409Arg) variant of SATB2 (DNA-binding protein SATB2)
Q409R (p.Gln409Arg) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
Q409R (p.Gln409Arg) variant details
- p.Gln409Arg
- rs2468868436
- ClinGen CA350386481
- NCI-TCGA Cosmic COSV5349
- ClinVar RCV002505915
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.146
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)