A2S (p.Ala2Ser) variant of NCF4 (Neutrophil cytosol factor 4)
A2S (p.Ala2Ser) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 22-36861175-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.00
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available