L33P (p.Leu33Pro) variant of OPA1 (O60313)
L33P (p.Leu33Pro) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- gnomAD 3-193614788-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.72
- CADD 27.60
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available