L41L (p.Leu41Leu) variant of OPTN (Optineurin)
L41L (p.Leu41Leu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- rs11591687
- gnomAD 10-13109245-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 8.72
- Population evidence available
- Structural context available
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)