S17I (p.Ser17Ile) variant of OPTN (Optineurin)
S17I (p.Ser17Ile) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- ExAC rs775446537
- TOPMed rs775446537
- gnomAD rs775446537
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.29
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available