R52Q (p.Arg52Gln) variant of OPA1 (O60313)
R52Q (p.Arg52Gln) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs749115822
- ClinGen CA2758942
- ClinVar RCV001874796
- ExAC rs749115822
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available