T119I (p.Thr119Ile) variant of POGZ (Q7Z3K3)
T119I (p.Thr119Ile) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T119I (p.Thr119Ile) variant details
- p.Thr119Ile
- Ensembl rs1320649447
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 25.00
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available