W75R (p.Trp75Arg) variant of OPTN (Optineurin)
W75R (p.Trp75Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
W75R (p.Trp75Arg) variant details
- p.Trp75Arg
- Ensembl rs1832967921
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.68
- CADD 29.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available