D14E (p.Asp14Glu) variant of OPTN (Optineurin)
D14E (p.Asp14Glu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- Ensembl rs1832937262
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available