N66K (p.Asn66Lys) variant of NCF1 (Neutrophil cytosol factor 1)
N66K (p.Asn66Lys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N66K (p.Asn66Lys) variant details
- p.Asn66Lys
- TOPMed rs1554413403
- gnomAD rs1554413403
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.03
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.17