K251E (p.Lys251Glu) variant of ATRX (Chromatin remodeler ATRX)
K251E (p.Lys251Glu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
K251E (p.Lys251Glu) variant details
- p.Lys251Glu
- rs1569539477
- ClinGen CA413720749
- ClinVar RCV000012499
- Ensembl rs1569539477
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.78
- MetaSVM 0.65
- PolyPhen-2 0.98
- SIFT 0.10
- ClinVar: Pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene… (PMID 3658675)
- Cited in: Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. (PMID 9244431)