V205A (p.Val205Ala) variant of POGZ (Q7Z3K3)
V205A (p.Val205Ala) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V205A (p.Val205Ala) variant details
- p.Val205Ala
- gnomAD rs1174868030
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.83
- CADD 25.60
- PolyPhen-2 0.75
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available