L54M (p.Leu54Met) variant of OPTN (Optineurin)
L54M (p.Leu54Met) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L54M (p.Leu54Met) variant details
- p.Leu54Met
- gnomAD 10-13109282-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.52
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available