Y473H (p.Tyr473His) variant of POGZ (Q7Z3K3)
Y473H (p.Tyr473His) 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 1.00 / 1. The record also includes published literature and structural context.
Y473H (p.Tyr473His) variant details
- p.Tyr473His
- rs2529438348
- ClinGen CA341971047
- ClinVar RCV003333443
- Likely pathogenic
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- 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)