L29V (p.Leu29Val) variant of NCF1 (Neutrophil cytosol factor 1)
L29V (p.Leu29Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- gnomAD rs1554413126
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.73
- CADD 22.20
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.897