H69R (p.His69Arg) variant of NCF2 (Neutrophil cytosol factor 2)
H69R (p.His69Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- cosmic curated COSV10528
- TOPMed rs1448318570
- gnomAD rs1448318570
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.51
- MetaLR 0.42
- MetaSVM -0.13
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.671