D27G (p.Asp27Gly) variant of NCF2 (Neutrophil cytosol factor 2)
D27G (p.Asp27Gly) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D27G (p.Asp27Gly) variant details
- p.Asp27Gly
- gnomAD rs1413816919
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- MetaLR 0.22
- MetaSVM -0.92
- CADD 17.60
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.869