S63R (p.Ser63Arg) variant of NCF2 (Neutrophil cytosol factor 2)
S63R (p.Ser63Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S63R (p.Ser63Arg) variant details
- p.Ser63Arg
- TOPMed rs1317264911
- gnomAD rs1317264911
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- MetaLR 0.42
- MetaSVM -0.28
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.6