F7Y (p.Phe7Tyr) variant of POGZ (Q7Z3K3)
F7Y (p.Phe7Tyr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F7Y (p.Phe7Tyr) variant details
- p.Phe7Tyr
- ExAC rs752245575
- gnomAD rs752245575
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available