T49S (p.Thr49Ser) variant of OPTN (Optineurin)
T49S (p.Thr49Ser) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- gnomAD 10-13109267-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.16
- CADD 15.20
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available