L4P (p.Leu4Pro) variant of OPA1 (O60313)
L4P (p.Leu4Pro) in OPA1 (O60313) 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.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 3-193593388-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available