V27I (p.Val27Ile) variant of CYBB (NADPH oxidase 2)
V27I (p.Val27Ile) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- gnomAD X-37782121-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.23
- CADD 9.33
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available