Q146K (p.Gln146Lys) variant of POGZ (Q7Z3K3)
Q146K (p.Gln146Lys) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q146K (p.Gln146Lys) variant details
- p.Gln146Lys
- ExAC rs771612415
- gnomAD rs771612415
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.35
- ESM-1b 0.37
- AlphaMissense 0.58
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available