V9L (p.Val9Leu) variant of OPA1 (O60313)
V9L (p.Val9Leu) 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.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- gnomAD 3-193593402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available