R52G (p.Arg52Gly) variant of OPA1 (O60313)
R52G (p.Arg52Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- gnomAD 3-193614844-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.66
- CADD 23.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available