H26Y (p.His26Tyr) variant of OPTN (Optineurin)
H26Y (p.His26Tyr) in OPTN (Optineurin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GLC1E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- cosmic curated COSV10730
- 1000Genomes rs200710076
- ExAC rs200710076
- TOPMed rs200710076
- Uncertain significance
- in GLC1E
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.20
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.41
- EBI: Variant of uncertain significance (in GLC1E)
- UniProt: Uncertain significance (in GLC1E)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available