N66S (p.Asn66Ser) variant of NCF1 (Neutrophil cytosol factor 1)
N66S (p.Asn66Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N66S (p.Asn66Ser) variant details
- p.Asn66Ser
- 1000Genomes rs1437235552
- gnomAD rs1437235552
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.05
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.17