D33D (p.Asp33Asp) variant of OPTN (Optineurin)
D33D (p.Asp33Asp) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D33D (p.Asp33Asp) variant details
- p.Asp33Asp
- rs773608620
- gnomAD 10-13109221-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 9.14
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available