I24K (p.Ile24Lys) variant of OPA1 (O60313)
I24K (p.Ile24Lys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I24K (p.Ile24Lys) variant details
- p.Ile24Lys
- 1000Genomes rs555053360
- ExAC rs555053360
- gnomAD rs555053360
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.50
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available