T40N (p.Thr40Asn) variant of POGZ (Q7Z3K3)
T40N (p.Thr40Asn) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- ExAC rs759913247
- TOPMed rs759913247
- gnomAD rs759913247
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available