W32R (p.Trp32Arg) variant of NCF1 (Neutrophil cytosol factor 1)
W32R (p.Trp32Arg) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W32R (p.Trp32Arg) variant details
- p.Trp32Arg
- gnomAD 7-74777288-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.72
- MetaLR 0.50
- MetaSVM 0.10
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.256
- Literature evidence available