C14Y (p.Cys14Tyr) variant of OPA1 (O60313)
C14Y (p.Cys14Tyr) 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.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- ExAC rs767733553
- gnomAD rs767733553
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.90
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available