R6G (p.Arg6Gly) variant of OPA1 (O60313)
R6G (p.Arg6Gly) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs2474395929
- ClinGen CA355785458
- ClinVar RCV003050352
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.50
- CADD 29.40
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available