K557T (p.Lys557Thr) variant of OPTN (Optineurin)
K557T (p.Lys557Thr) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
K557T (p.Lys557Thr) variant details
- p.Lys557Thr
- rs1357375850
- ClinGen CA376030760
- ClinVar RCV003788520
- TOPMed rs1357375850
- Likely pathogenic
- Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrophic lateral scle
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.88
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary open angle glaucoma; Glaucoma 1, open angle, E; Amyotrop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)