K25R (p.Lys25Arg) variant of OPA1 (O60313)
K25R (p.Lys25Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K25R (p.Lys25Arg) variant details
- p.Lys25Arg
- gnomAD 3-193614764-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.16
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available