L9F (p.Leu9Phe) variant of OPTN (Optineurin)
L9F (p.Leu9Phe) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- Ensembl rs1832936984
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- CADD 23.30
- Most common in the South Asian population (allele frequency 0.00021)