H69L (p.His69Leu) variant of NCF2 (Neutrophil cytosol factor 2)
H69L (p.His69Leu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H69L (p.His69Leu) variant details
- p.His69Leu
- TOPMed rs1448318570
- gnomAD rs1448318570
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- MetaLR 0.42
- MetaSVM 0.17
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.671