V40del (p.Val40del) variant of NCF1 (Neutrophil cytosol factor 1)
V40del (p.Val40del) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40del (p.Val40del) variant details
- gnomAD 7-74777307-AGGT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 18.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available