E46K (p.Glu46Lys) variant of OPTN (Optineurin)
E46K (p.Glu46Lys) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- ExAC rs767309978
- TOPMed rs767309978
- gnomAD rs767309978
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.31
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available