R857G (p.Arg857Gly) variant of POGZ (Q7Z3K3)
R857G (p.Arg857Gly) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.25 / 1. The record also includes published literature and structural context.
R857G (p.Arg857Gly) variant details
- p.Arg857Gly
- rs2102152736
- ClinGen CA341952358
- ClinVar RCV002249136
- Ensembl rs2102152736
- Likely pathogenic
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.09
- MetaSVM -0.96
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)