I108V (p.Ile108Val) variant of POGZ (Q7Z3K3)
I108V (p.Ile108Val) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I108V (p.Ile108Val) variant details
- p.Ile108Val
- TOPMed rs1399896860
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 3.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available