A56T (p.Ala56Thr) variant of POGZ (Q7Z3K3)
A56T (p.Ala56Thr) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs1283746447
- ClinGen CA341985847
- ClinVar RCV003135074
- TOPMed rs1283746447
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Intellectual disability-microcephaly-strabismus-behavioral abnor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: White-Sutton Syndrome. (PMID 34529370)