V25M (p.Val25Met) variant of NCF1 (Neutrophil cytosol factor 1)
V25M (p.Val25Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- gnomAD 7-74777267-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.28
- MetaLR 0.56
- MetaSVM 0.20
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.904
- Literature evidence available