T82R (p.Thr82Arg) variant of POGZ (Q7Z3K3)
T82R (p.Thr82Arg) 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 0.24 / 1. The record also includes published literature and structural context.
T82R (p.Thr82Arg) variant details
- p.Thr82Arg
- rs2529678767
- ClinGen CA341985535
- ClinVar RCV002510749
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- ESM-1b 0.00
- AlphaMissense 0.40
- 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)