A57T (p.Ala57Thr) variant of POGZ (Q7Z3K3)
A57T (p.Ala57Thr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- TOPMed rs1046798842
- gnomAD rs1046798842
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available