R56K (p.Arg56Lys) variant of OPA1 (O60313)
R56K (p.Arg56Lys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R56K (p.Arg56Lys) variant details
- p.Arg56Lys
- gnomAD 3-193614857-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available