T210N (p.Thr210Asn) variant of POGZ (Q7Z3K3)
T210N (p.Thr210Asn) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T210N (p.Thr210Asn) variant details
- p.Thr210Asn
- TOPMed rs1377437933
- gnomAD rs1377437933
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available