E18V (p.Glu18Val) variant of OPTN (Optineurin)
E18V (p.Glu18Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- ExAC rs762818081
- gnomAD rs762818081
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.22
- CADD 22.00
- PolyPhen-2 0.70
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available