T39I (p.Thr39Ile) variant of POGZ (Q7Z3K3)
T39I (p.Thr39Ile) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- Ensembl rs1056366277
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available