I49N (p.Ile49Asn) variant of NCF2 (Neutrophil cytosol factor 2)
I49N (p.Ile49Asn) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I49N (p.Ile49Asn) variant details
- p.Ile49Asn
- TOPMed rs1673575574
- gnomAD rs1673575574
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.35
- CADD 22.50
- PolyPhen-2 0.28
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.588