S141P (p.Ser141Pro) variant of POGZ (Q7Z3K3)
S141P (p.Ser141Pro) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S141P (p.Ser141Pro) variant details
- p.Ser141Pro
- TOPMed rs1658542036
- gnomAD rs1658542036
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available