V202A (p.Val202Ala) variant of POGZ (Q7Z3K3)
V202A (p.Val202Ala) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V202A (p.Val202Ala) variant details
- p.Val202Ala
- 1000Genomes rs565923819
- ExAC rs565923819
- gnomAD rs565923819
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 22.30
- PolyPhen-2 0.06
- SIFT 0.26
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available