M1L (p.Met1Leu) variant of NCF2 (Neutrophil cytosol factor 2)
M1L (p.Met1Leu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs780810631
- ClinGen CA343685515
- ClinVar RCV002002386
- Conflicting interpretations
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- MetaLR 0.61
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- MutPred 0.99
- ClinVar: Conflicting classifications of pathogenicity (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- UniProt: Conflicting interpretations
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.571
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)