P5P (p.Pro5Pro) variant of OPTN (Optineurin)
P5P (p.Pro5Pro) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- gnomAD 10-13109137-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available