V30L (p.Val30Leu) variant of POGZ (Q7Z3K3)
V30L (p.Val30Leu) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- TOPMed rs1430849666
- gnomAD rs1430849666
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.56
- CADD 21.60
- PolyPhen-2 0.44
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available