R60L (p.Arg60Leu) variant of NCF4 (Neutrophil cytosol factor 4)
R60L (p.Arg60Leu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- cosmic curated COSV50627
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.28
- MetaLR 0.29
- MetaSVM -0.50
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available