A62E (p.Ala62Glu) variant of NCF1 (Neutrophil cytosol factor 1)
A62E (p.Ala62Glu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A62E (p.Ala62Glu) variant details
- p.Ala62Glu
- gnomAD 7-74779113-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- MetaLR 0.37
- MetaSVM -0.16
- CADD 23.50
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0747
- Literature evidence available