Q391P (p.Gln391Pro) variant of SATB2 (DNA-binding protein SATB2)
Q391P (p.Gln391Pro) 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 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
Q391P (p.Gln391Pro) variant details
- p.Gln391Pro
- rs2105822776
- ClinGen CA350387014
- ClinVar RCV001375953
- Ensembl rs2105822776
- Likely pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.123
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)