S43S (p.Ser43Ser) variant of OPA1 (O60313)
S43S (p.Ser43Ser) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- gnomAD 3-193614819-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0817
- CADD 0.14
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available
- Literature evidence available