P16L (p.Pro16Leu) variant of OPTN (Optineurin)
P16L (p.Pro16Leu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD rs1346163805
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- CADD 13.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available