P37A (p.Pro37Ala) variant of CYBB (NADPH oxidase 2)
P37A (p.Pro37Ala) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- ExAC rs782057051
- gnomAD rs782057051
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available