L70S (p.Leu70Ser) variant of NCF2 (Neutrophil cytosol factor 2)
L70S (p.Leu70Ser) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L70S (p.Leu70Ser) variant details
- p.Leu70Ser
- Ensembl rs895330372
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- MetaLR 0.29
- MetaSVM -0.75
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.59
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.15