S63S (p.Ser63Ser) variant of OPA1 (O60313)
S63S (p.Ser63Ser) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S63S (p.Ser63Ser) variant details
- p.Ser63Ser
- rs1432723118
- gnomAD 3-193614879-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 9.59
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available
- Literature evidence available