A166T (p.Ala166Thr) variant of POGZ (Q7Z3K3)
A166T (p.Ala166Thr) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
A166T (p.Ala166Thr) variant details
- p.Ala166Thr
- rs2102303092
- ClinGen CA341980952
- ClinVar RCV001977907
- Ensembl rs2102303092
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.17
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available