V53M (p.Val53Met) variant of POGZ (Q7Z3K3)
V53M (p.Val53Met) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- ESP rs144583773
- ExAC rs144583773
- TOPMed rs144583773
- gnomAD rs144583773
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available