L576P (p.Leu576Pro) variant of POGZ (Q7Z3K3)
L576P (p.Leu576Pro) 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 0.57 / 1. The record also includes published literature and structural context.
L576P (p.Leu576Pro) variant details
- p.Leu576Pro
- rs1057519392
- ClinGen CA16044355
- ClinVar RCV000417037
- Ensembl rs1057519392
- Likely pathogenic
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.15
- MetaSVM -0.82
- PolyPhen-2 1.00
- 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)