V53G (p.Val53Gly) variant of POGZ (Q7Z3K3)
V53G (p.Val53Gly) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V53G (p.Val53Gly) variant details
- p.Val53Gly
- TOPMed rs1660449423
- gnomAD rs1660449423
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available