L118M (p.Leu118Met) variant of NCF2 (Neutrophil cytosol factor 2)
L118M (p.Leu118Met) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L118M (p.Leu118Met) variant details
- p.Leu118Met
- gnomAD rs1490800202
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.55
- MetaLR 0.58
- MetaSVM -0.27
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available