I148L (p.Ile148Leu) variant of POGZ (Q7Z3K3)
I148L (p.Ile148Leu) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I148L (p.Ile148Leu) variant details
- p.Ile148Leu
- gnomAD rs1180210453
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.50
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available