K52S (p.Lys52Ser) variant of NCF4 (Neutrophil cytosol factor 4)
K52S (p.Lys52Ser) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K52S (p.Lys52Ser) variant details
- p.Lys52Ser
- rs1282571591
- gnomAD 22-36864952-TCCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available