S36L (p.Ser36Leu) variant of NCF1 (Neutrophil cytosol factor 1)
S36L (p.Ser36Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- rs1554413130
- NCI-TCGA Cosmic COSV9919
- TOPMed rs1554413130
- gnomAD rs1554413130
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.50
- MetaLR 0.60
- MetaSVM 0.44
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.772