T34M (p.Thr34Met) variant of OPTN (Optineurin)
T34M (p.Thr34Met) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 12; Primary open angle glaucoma; Glaucoma 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T34M (p.Thr34Met) variant details
- p.Thr34Met
- rs1197658293
- ClinGen CA376027139
- ClinVar RCV003797842
- TOPMed rs1197658293
- Uncertain significance
- Amyotrophic lateral sclerosis type 12; Primary open angle glaucoma; Glaucoma 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.52
- SIFT 0.11
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 12; Primary open angle glauco)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)