G23E (p.Gly23Glu) variant of OPA1 (O60313)
G23E (p.Gly23Glu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- gnomAD 3-193614758-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.44
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available