S2F (p.Ser2Phe) variant of OPTN (Optineurin)
S2F (p.Ser2Phe) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- TOPMed rs1832936173
- gnomAD rs1832936173
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.47
- CADD 26.10
- Most common in the African/African-American population (allele frequency 2.4e-05)