H45R (p.His45Arg) variant of OPA1 (O60313)
H45R (p.His45Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- gnomAD 3-193614824-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.26
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available