S73S (p.Ser73Ser) variant of OPTN (Optineurin)
S73S (p.Ser73Ser) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S73S (p.Ser73Ser) variant details
- p.Ser73Ser
- rs1430621754
- gnomAD 10-13110326-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0981
- CADD 2.47
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available