R68K (p.Arg68Lys) variant of OPTN (Optineurin)
R68K (p.Arg68Lys) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R68K (p.Arg68Lys) variant details
- p.Arg68Lys
- cosmic curated COSV53811
- gnomAD rs1186383300
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.57
- CADD 27.00
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available