V27F (p.Val27Phe) variant of CYBB (NADPH oxidase 2)
V27F (p.Val27Phe) in CYBB (NADPH oxidase 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 0.53 / 1. The record also includes population frequency data and structural context.
V27F (p.Val27Phe) variant details
- p.Val27Phe
- rs782168000
- NCI-TCGA Cosmic COSV1010
- ExAC rs782168000
- gnomAD rs782168000
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.67
- CADD 16.60
- PolyPhen-2 0.19
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available