L27L (p.Leu27Leu) variant of OPTN (Optineurin)
L27L (p.Leu27Leu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- gnomAD 10-13109201-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 5.77
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available