S43A (p.Ser43Ala) variant of POGZ (Q7Z3K3)
S43A (p.Ser43Ala) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S43A (p.Ser43Ala) variant details
- p.Ser43Ala
- TOPMed rs1445317603
- gnomAD rs1445317603
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available