E1040K (p.Glu1040Lys) variant of POGZ (Q7Z3K3)
E1040K (p.Glu1040Lys) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
E1040K (p.Glu1040Lys) variant details
- p.Glu1040Lys
- rs2102146729
- ClinGen CA341945520
- cosmic curated COSV10961
- ClinVar RCV002254060
- Pathogenic/Likely pathogenic
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.07
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. (PMID 25694107)
- Cited in: White-Sutton Syndrome. (PMID 34529370)