S19N (p.Ser19Asn) variant of OPTN (Optineurin)
S19N (p.Ser19Asn) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- TOPMed rs1302864896
- gnomAD rs1302864896
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.18
- CADD 6.77
- PolyPhen-2 0.03
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available