T76R (p.Thr76Arg) variant of OPTN (Optineurin)
T76R (p.Thr76Arg) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T76R (p.Thr76Arg) variant details
- p.Thr76Arg
- ExAC rs781755765
- gnomAD rs781755765
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.23
- CADD 16.20
- PolyPhen-2 0.07
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available