Q43Q (p.Gln43Gln) variant of OPTN (Optineurin)
Q43Q (p.Gln43Gln) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q43Q (p.Gln43Gln) variant details
- p.Gln43Gln
- rs1832940248
- gnomAD 10-13109251-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 8.67
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available