R5L (p.Arg5Leu) variant of OPA1 (O60313)
R5L (p.Arg5Leu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 3-193593391-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available