K49R (p.Lys49Arg) variant of OPA1 (O60313)
K49R (p.Lys49Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- gnomAD 3-193614836-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.30
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available