S27S (p.Ser27Ser) variant of OPA1 (O60313)
S27S (p.Ser27Ser) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs1185215972
- gnomAD 3-193614771-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.61
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available