L9P (p.Leu9Pro) variant of NCF2 (Neutrophil cytosol factor 2)
L9P (p.Leu9Pro) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- TOPMed rs1213412723
- gnomAD rs1213412723
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.71
- MetaLR 0.55
- MetaSVM 0.07
- CADD 29.60
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.93