D33V (p.Asp33Val) variant of OPTN (Optineurin)
D33V (p.Asp33Val) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle. The record also includes structural context.
D33V (p.Asp33Val) variant details
- p.Asp33Val
- ExAC rs758762753
- gnomAD rs758762753
- Uncertain significance
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- ClinVar: Uncertain significance (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- UniProt: Uncertain significance
- Structural context available