C10S (p.Cys10Ser) variant of POGZ (Q7Z3K3)
C10S (p.Cys10Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C10S (p.Cys10Ser) variant details
- p.Cys10Ser
- ExAC rs781348144
- gnomAD rs781348144
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available