M65T (p.Met65Thr) variant of OPTN (Optineurin)
M65T (p.Met65Thr) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glaucoma 1, open angle, E; Amyotrophic lateral sclerosis type 12; Primary open a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
M65T (p.Met65Thr) variant details
- p.Met65Thr
- rs2539036228
- ClinGen CA376027358
- ClinVar RCV002988839
- Uncertain significance
- Glaucoma 1, open angle, E; Amyotrophic lateral sclerosis type 12; Primary open a
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.67
- CADD 25.70
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Glaucoma 1, open angle, E; Amyotrophic lateral sclerosis type 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)