K49K (p.Lys49Lys) variant of OPA1 (O60313)
K49K (p.Lys49Lys) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K49K (p.Lys49Lys) variant details
- p.Lys49Lys
- rs769786073
- gnomAD 3-193614837-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 8.22
- Population evidence available
- Structural context available
- Literature evidence available