L30L (p.Leu30Leu) variant of OPA1 (O60313)
L30L (p.Leu30Leu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs185976555
- gnomAD 3-193614778-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 9.95
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available