P35S (p.Pro35Ser) variant of NCF2 (Neutrophil cytosol factor 2)
P35S (p.Pro35Ser) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- ESP rs368781381
- ExAC rs368781381
- gnomAD rs368781381
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.65
- MetaLR 0.52
- MetaSVM 0.34
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.69