R38G (p.Arg38Gly) variant of OPA1 (O60313)
R38G (p.Arg38Gly) in OPA1 (O60313) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- Ensembl rs761460379
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.55
- CADD 21.70
- PolyPhen-2 0.19
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available