N69K (p.Asn69Lys) variant of NCF1 (Neutrophil cytosol factor 1)
N69K (p.Asn69Lys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N69K (p.Asn69Lys) variant details
- p.Asn69Lys
- gnomAD 7-74779135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.10
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available