V200D (p.Val200Asp) variant of POGZ (Q7Z3K3)
V200D (p.Val200Asp) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V200D (p.Val200Asp) variant details
- p.Val200Asp
- ExAC rs781492157
- gnomAD rs781492157
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available