A166V (p.Ala166Val) variant of POGZ (Q7Z3K3)
A166V (p.Ala166Val) 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 0.27 / 1. The record also includes structural context.
A166V (p.Ala166Val) variant details
- p.Ala166Val
- rs951768095
- ClinGen CA341980939
- ClinVar RCV003699915
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.51
- PolyPhen-2 0.22
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available