V220M (p.Val220Met) variant of POGZ (Q7Z3K3)
V220M (p.Val220Met) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V220M (p.Val220Met) variant details
- p.Val220Met
- ExAC rs764019237
- TOPMed rs764019237
- gnomAD rs764019237
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available