A62A (p.Ala62Ala) variant of NCF1 (Neutrophil cytosol factor 1)
A62A (p.Ala62Ala) in NCF1 (Neutrophil cytosol factor 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A62A (p.Ala62Ala) variant details
- p.Ala62Ala
- rs1309796480
- gnomAD 7-74779114-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0886
- CADD 1.13
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0747
- Literature evidence available