S28F (p.Ser28Phe) variant of POGZ (Q7Z3K3)
S28F (p.Ser28Phe) 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 0.47 / 1. The record also includes published literature and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs1439970488
- ClinGen CA341986032
- ClinVar RCV001331945
- gnomAD rs1439970488
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.01
- MetaSVM -0.58
- PolyPhen-2 1.00
- 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)