Q33Q (p.Gln33Gln) variant of NCF1 (Neutrophil cytosol factor 1)
Q33Q (p.Gln33Gln) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q33Q (p.Gln33Gln) variant details
- p.Gln33Gln
- rs1195263560
- gnomAD 7-74778399-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 16.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.177
- Literature evidence available