N74K (p.Asn74Lys) variant of PIK3CD (O00329)
N74K (p.Asn74Lys) in PIK3CD (O00329) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N74K (p.Asn74Lys) variant details
- p.Asn74Lys
- gnomAD 1-9715620-ACC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 25.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available