Q54R (p.Gln54Arg) variant of OPA1 (O60313)
Q54R (p.Gln54Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- ExAC rs775741716
- gnomAD rs775741716
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.28
- CADD 20.20
- PolyPhen-2 0.10
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available