Y41del (p.Tyr41del) variant of NCF1 (Neutrophil cytosol factor 1)
Y41del (p.Tyr41del) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y41del (p.Tyr41del) variant details
- gnomAD 7-74777313-TCTA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 19.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.401
- Literature evidence available