S30N (p.Ser30Asn) variant of NCF2 (Neutrophil cytosol factor 2)
S30N (p.Ser30Asn) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- 1000Genomes rs544745512
- ExAC rs544745512
- gnomAD rs544745512
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.12
- MetaLR 0.26
- MetaSVM -0.92
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -1.08