Q42Q (p.Gln42Gln) variant of OPTN (Optineurin)
Q42Q (p.Gln42Gln) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q42Q (p.Gln42Gln) variant details
- p.Gln42Gln
- gnomAD 10-13109248-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 6.71
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available