P24L (p.Pro24Leu) variant of OPTN (Optineurin)
P24L (p.Pro24Leu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- ESP rs374055453
- ExAC rs374055453
- TOPMed rs374055453
- gnomAD rs374055453
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available