A114S (p.Ala114Ser) variant of POGZ (Q7Z3K3)
A114S (p.Ala114Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A114S (p.Ala114Ser) variant details
- p.Ala114Ser
- ExAC rs751606136
- gnomAD rs751606136
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available