L35M (p.Leu35Met) variant of NCF1 (Neutrophil cytosol factor 1)
L35M (p.Leu35Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- gnomAD 7-74777297-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.16
- MetaLR 0.45
- MetaSVM 0.04
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.199
- Literature evidence available