P5S (p.Pro5Ser) variant of OPTN (Optineurin)
P5S (p.Pro5Ser) 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.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs1192626604
- gnomAD rs1192626604
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.41
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)