E11K (p.Glu11Lys) variant of POGZ (Q7Z3K3)
E11K (p.Glu11Lys) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs1660636434
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 13.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available