R58H (p.Arg58His) variant of NCF4 (Neutrophil cytosol factor 4)
R58H (p.Arg58His) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- rs763314327
- ClinGen CA10212882
- NCI-TCGA Cosmic COSV5062
- cosmic curated COSV50620
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.54
- MetaLR 0.49
- MetaSVM 0.01
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available