L35V (p.Leu35Val) variant of NCF1 (Neutrophil cytosol factor 1)
L35V (p.Leu35Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- rs1796511300
- gnomAD 7-74778325-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 4.82
- SIFT 0.78
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.199
- Literature evidence available