M79V (p.Met79Val) variant of NCF2 (Neutrophil cytosol factor 2)
M79V (p.Met79Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M79V (p.Met79Val) variant details
- p.Met79Val
- rs137854512
- ClinGen CA219767
- ClinVar RCV000059361
- UniProt VAR 065006
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -0.99
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.30
- ClinVar: not provided (not provided)
- UniProt: Not provided (in dbSNP:rs137854512)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)