L54R (p.Leu54Arg) variant of OPTN (Optineurin)
L54R (p.Leu54Arg) in OPTN (Optineurin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L54R (p.Leu54Arg) variant details
- p.Leu54Arg
- ExAC rs753480064
- TOPMed rs753480064
- gnomAD rs753480064
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.76
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available