V182F (p.Val182Phe) variant of POGZ (Q7Z3K3)
V182F (p.Val182Phe) in POGZ (Q7Z3K3) is a missense change. 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.
V182F (p.Val182Phe) variant details
- p.Val182Phe
- gnomAD rs1359729945
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available