T181M (p.Thr181Met) variant of POGZ (Q7Z3K3)
T181M (p.Thr181Met) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T181M (p.Thr181Met) variant details
- p.Thr181Met
- cosmic curated COSV55033
- gnomAD rs200259906
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.66
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available