V40I (p.Val40Ile) variant of NCF1 (Neutrophil cytosol factor 1)
V40I (p.Val40Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- Ensembl rs1796487970
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.94
- CADD 14.70
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902