P16A (p.Pro16Ala) variant of OPTN (Optineurin)
P16A (p.Pro16Ala) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Glaucoma 1, open angle, E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs758942502
- ClinGen CA5410495
- ClinVar RCV000517518
- ClinVar RCV001857915
- Uncertain significance
- not specified; not provided; Glaucoma 1, open angle, E
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.47
- CADD 8.59
- PolyPhen-2 0.36
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; not provided; Glaucoma 1, open angle, E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0012)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)