L54F (p.Leu54Phe) variant of NCF4 (Neutrophil cytosol factor 4)
L54F (p.Leu54Phe) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD rs1338406421
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.12
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.26
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available