F62F (p.Phe62Phe) variant of OPA1 (O60313)
F62F (p.Phe62Phe) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F62F (p.Phe62Phe) variant details
- p.Phe62Phe
- rs919610137
- gnomAD 3-193614876-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 10.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available