R3Q (p.Arg3Gln) variant of OPA1 (O60313)
R3Q (p.Arg3Gln) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- TOPMed rs975168746
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.42
- CADD 27.00
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available