P20A (p.Pro20Ala) variant of NCF1 (Neutrophil cytosol factor 1)
P20A (p.Pro20Ala) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs1796511368
- gnomAD 7-74778328-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0673
- CADD 3.14
- SIFT 0.04
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.336
- Literature evidence available