R6Q (p.Arg6Gln) variant of OPA1 (O60313)
R6Q (p.Arg6Gln) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- gnomAD 3-193593394-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.34
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available