F40V (p.Phe40Val) variant of CYBB (NADPH oxidase 2)
F40V (p.Phe40Val) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F40V (p.Phe40Val) variant details
- p.Phe40Val
- gnomAD rs1556464576
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.35
- AlphaMissense 0.69
- MetaLR 0.65
- MetaSVM -0.14
- CADD 9.20
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available