V25A (p.Val25Ala) variant of NCF1 (Neutrophil cytosol factor 1)
V25A (p.Val25Ala) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- gnomAD rs1554413122
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.31
- MetaLR 0.47
- MetaSVM -0.05
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.904