V123M (p.Val123Met) variant of NCF2 (Neutrophil cytosol factor 2)
V123M (p.Val123Met) in NCF2 (Neutrophil cytosol factor 2) 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 0.57 / 1. The record also includes population frequency data and structural context.
V123M (p.Val123Met) variant details
- p.Val123Met
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.43
- MetaLR 0.48
- MetaSVM -0.00
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available