P16T (p.Pro16Thr) variant of OPTN (Optineurin)
P16T (p.Pro16Thr) in OPTN (Optineurin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- ExAC rs758942502
- TOPMed rs758942502
- gnomAD rs758942502
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available