H3L (p.His3Leu) variant of OPTN (Optineurin)
H3L (p.His3Leu) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
H3L (p.His3Leu) variant details
- p.His3Leu
- ExAC rs773681749
- TOPMed rs773681749
- gnomAD rs773681749
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.28
- CADD 24.00
- PolyPhen-2 0.66
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)