K30E (p.Lys30Glu) variant of SATB2 (DNA-binding protein SATB2)
K30E (p.Lys30Glu) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
K30E (p.Lys30Glu) variant details
- p.Lys30Glu
- rs1574645369
- ClinGen CA350388512
- ClinVar RCV001198892
- Ensembl rs1574645369
- Uncertain significance
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.41
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Chromosome 2q32-q33 deletion syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)