R6W (p.Arg6Trp) variant of OPA1 (O60313)
R6W (p.Arg6Trp) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- gnomAD 3-193593393-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available
- Literature evidence available