K32K (p.Lys32Lys) variant of OPA1 (O60313)
K32K (p.Lys32Lys) 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.
K32K (p.Lys32Lys) variant details
- p.Lys32Lys
- rs779882253
- gnomAD 3-193614786-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 10.00
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available