L107F (p.Leu107Phe) variant of POGZ (Q7Z3K3)
L107F (p.Leu107Phe) 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 0.40 / 1. The record also includes population frequency data and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- rs998675361
- ClinGen CA29590073
- ClinVar RCV003231890
- TOPMed rs998675361
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 24.60
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available