V40V (p.Val40Val) variant of NCF1 (Neutrophil cytosol factor 1)
V40V (p.Val40Val) in NCF1 (Neutrophil cytosol factor 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- rs1554413136
- gnomAD 7-74777314-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 5.75
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available