K52Q (p.Lys52Gln) variant of NCF1 (Neutrophil cytosol factor 1)
K52Q (p.Lys52Gln) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- rs1584369793
- gnomAD 7-74778382-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 4.86
- SIFT 0.09
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available