T76S (p.Thr76Ser) variant of OPTN (Optineurin)
T76S (p.Thr76Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T76S (p.Thr76Ser) variant details
- p.Thr76Ser
- gnomAD 10-13110333-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.22
- CADD 19.50
- PolyPhen-2 0.12
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available