H69N (p.His69Asn) variant of NCF2 (Neutrophil cytosol factor 2)
H69N (p.His69Asn) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H69N (p.His69Asn) variant details
- p.His69Asn
- Ensembl rs1673380587
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.27
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.671