C40R (p.Cys40Arg) variant of NCF2 (Neutrophil cytosol factor 2)
C40R (p.Cys40Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- TOPMed rs979104686
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.66
- MetaLR 0.52
- MetaSVM -0.02
- CADD 29.90
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.931