T40I (p.Thr40Ile) variant of POGZ (Q7Z3K3)
T40I (p.Thr40Ile) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- cosmic curated COSV99652
- ExAC rs759913247
- TOPMed rs759913247
- gnomAD rs759913247
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- ESM-1b 0.00
- AlphaMissense 0.30
- Structural context available