S17C (p.Ser17Cys) variant of OPTN (Optineurin)
S17C (p.Ser17Cys) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD rs1832937523
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- CADD 11.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available