C14S (p.Cys14Ser) variant of OPA1 (O60313)
C14S (p.Cys14Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C14S (p.Cys14Ser) variant details
- p.Cys14Ser
- ExAC rs767733553
- gnomAD rs767733553
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.90
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available