E31K (p.Glu31Lys) variant of POGZ (Q7Z3K3)
E31K (p.Glu31Lys) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs2102370617
- ClinGen CA341986017
- ClinVar RCV002244194
- Ensembl rs2102370617
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.01
- MetaSVM -0.67
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)