E519K (p.Glu519Lys) variant of SATB2 (DNA-binding protein SATB2)
E519K (p.Glu519Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements, published literature, and structural context.
E519K (p.Glu519Lys) variant details
- p.Glu519Lys
- rs2468839305
- ClinGen CA350384666
- ClinVar RCV003233436
- Pathogenic
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score 0.0018
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)