L47L (p.Leu47Leu) variant of OPTN (Optineurin)
L47L (p.Leu47Leu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs1190954219
- gnomAD 10-13109263-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 8.24
- Population evidence available
- Structural context available
- Literature evidence available