L40L (p.Leu40Leu) variant of OPTN (Optineurin)
L40L (p.Leu40Leu) 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.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs768586357
- gnomAD 10-13109242-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 8.24
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available