V25V (p.Val25Val) variant of NCF1 (Neutrophil cytosol factor 1)
V25V (p.Val25Val) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V25V (p.Val25Val) variant details
- p.Val25Val
- rs782408014
- gnomAD 7-74777269-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 10.70
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.904
- Literature evidence available