T34T (p.Thr34Thr) variant of OPTN (Optineurin)
T34T (p.Thr34Thr) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T34T (p.Thr34Thr) variant details
- p.Thr34Thr
- rs2234968
- gnomAD 10-13109224-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0845
- CADD 0.54
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes. (PMID 33147747)
- Cited in: Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. (PMID 28993189)