I25T (p.Ile25Thr) variant of POGZ (Q7Z3K3)
I25T (p.Ile25Thr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- Ensembl rs1660631793
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available