I47N (p.Ile47Asn) variant of NCF1 (Neutrophil cytosol factor 1)
I47N (p.Ile47Asn) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I47N (p.Ile47Asn) variant details
- p.Ile47Asn
- rs782558908
- gnomAD 7-74778362-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0688
- CADD 3.45
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.903
- Literature evidence available