V40A (p.Val40Ala) variant of NCF1 (Neutrophil cytosol factor 1)
V40A (p.Val40Ala) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD 7-74778359-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 4.08
- SIFT 0.40
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available