T40A (p.Thr40Ala) variant of POGZ (Q7Z3K3)
T40A (p.Thr40Ala) 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.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- rs2102370481
- ClinGen CA341985953
- ClinVar RCV002221409
- Ensembl rs2102370481
- Uncertain significance
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.19
- 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)