R445G (p.Arg445Gly) variant of OPA1 (O60313)
R445G (p.Arg445Gly) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
R445G (p.Arg445Gly) variant details
- p.Arg445Gly
- rs886043340
- ClinGen CA355789731
- ClinVar RCV003484476
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 0.95
- SIFT 0.03
- EVE 0.90
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic (in DOA+ and OPA1)
- UniProt: Likely pathogenic (in DOA+ and OPA1)
- Structural context available