P25S (p.Pro25Ser) variant of OPTN (Optineurin)
P25S (p.Pro25Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- TOPMed rs1215499993
- gnomAD rs1215499993
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.21
- CADD 13.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available