L48L (p.Leu48Leu) variant of OPTN (Optineurin)
L48L (p.Leu48Leu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 10-13109264-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 9.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available