L4I (p.Leu4Ile) variant of OPA1 (O60313)
L4I (p.Leu4Ile) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 3-193593387-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available