S39S (p.Ser39Ser) variant of OPA1 (O60313)
S39S (p.Ser39Ser) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S39S (p.Ser39Ser) variant details
- p.Ser39Ser
- rs1487489879
- gnomAD 3-193614807-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 8.98
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available