A64T (p.Ala64Thr) variant of NCF1 (Neutrophil cytosol factor 1)
A64T (p.Ala64Thr) 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, published literature, and structural context.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- gnomAD 7-74779118-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -1.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0245
- Literature evidence available