V20I (p.Val20Ile) variant of NCF4 (Neutrophil cytosol factor 4)
V20I (p.Val20Ile) 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 provided; Granulomatous disease, chronic, autosomal recessive, cytochrome b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs575470394
- ClinGen CA10212820
- ClinVar RCV001327590
- ClinVar RCV004692516
- Uncertain significance
- not provided; Granulomatous disease, chronic, autosomal recessive, cytochrome b
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.03
- CADD 5.05
- PolyPhen-2 0.03
- SIFT 0.60
- ClinVar: Uncertain significance (not provided; Granulomatous disease, chronic, autosomal recessiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)