T53N (p.Thr53Asn) variant of NCF1 (Neutrophil cytosol factor 1)
T53N (p.Thr53Asn) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T53N (p.Thr53Asn) variant details
- p.Thr53Asn
- gnomAD 7-74779086-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.01
- CADD 4.84
- PolyPhen-2 0.05
- SIFT 0.26
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0584
- Literature evidence available