T76A (p.Thr76Ala) variant of OPTN (Optineurin)
T76A (p.Thr76Ala) 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; Glaucoma 1, open angle, E; Primary open a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- rs757528160
- ClinGen CA5410544
- ClinVar RCV002301694
- ExAC rs757528160
- Uncertain significance
- Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E; Primary open a
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.23
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)