T193A (p.Thr193Ala) variant of POGZ (Q7Z3K3)
T193A (p.Thr193Ala) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T193A (p.Thr193Ala) variant details
- p.Thr193Ala
- TOPMed rs1325417709
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available