p.Phe41 Val45del variant of NCF4 (Neutrophil cytosol factor 4)
p.Phe41 Val45del in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe41 Val45del variant details
- rs1200078508
- gnomAD 22-36864916-TAGGT
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available