Q51Q (p.Gln51Gln) variant of OPA1 (O60313)
Q51Q (p.Gln51Gln) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q51Q (p.Gln51Gln) variant details
- p.Gln51Gln
- rs1275939188
- gnomAD 3-193614843-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 7.21
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available
- Literature evidence available