Q54Q (p.Gln54Gln) variant of OPA1 (O60313)
Q54Q (p.Gln54Gln) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Q54Q (p.Gln54Gln) variant details
- p.Gln54Gln
- rs760710808
- gnomAD 3-193614852-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.81
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available