V9G (p.Val9Gly) variant of OPA1 (O60313)
V9G (p.Val9Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- gnomAD 3-193593403-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available