L50F (p.Leu50Phe) variant of OPA1 (O60313)
L50F (p.Leu50Phe) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- gnomAD 3-193614838-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available