I12L (p.Ile12Leu) variant of CYBB (NADPH oxidase 2)
I12L (p.Ile12Leu) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
I12L (p.Ile12Leu) variant details
- p.Ile12Leu
- rs797044560
- ClinGen CA236343
- ClinVar RCV000171434
- Ensembl rs797044560
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.11
- MetaLR 0.63
- MetaSVM 0.15
- PolyPhen-2 0.21
- SIFT 0.55
- EVE 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available