P24R (p.Pro24Arg) variant of OPTN (Optineurin)
P24R (p.Pro24Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- ESP rs374055453
- ExAC rs374055453
- TOPMed rs374055453
- gnomAD rs374055453
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 22.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available