H51H (p.His51His) variant of NCF1 (Neutrophil cytosol factor 1)
H51H (p.His51His) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H51H (p.His51His) variant details
- p.His51His
- rs1353672234
- gnomAD 7-74777347-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.91
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.197
- Literature evidence available