V49L (p.Val49Leu) variant of POGZ (Q7Z3K3)
V49L (p.Val49Leu) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- ExAC rs774769269
- TOPMed rs774769269
- gnomAD rs774769269
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available