T66I (p.Thr66Ile) variant of OPA1 (O60313)
T66I (p.Thr66Ile) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- gnomAD 3-193614887-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available