S16F (p.Ser16Phe) variant of OPA1 (O60313)
S16F (p.Ser16Phe) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- gnomAD rs1230361416
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.50
- CADD 18.60
- PolyPhen-2 0.56
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available