P24S (p.Pro24Ser) variant of OPTN (Optineurin)
P24S (p.Pro24Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- ExAC rs764166537
- TOPMed rs764166537
- gnomAD rs764166537
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- CADD 19.10
- PolyPhen-2 1.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available