Q51R (p.Gln51Arg) variant of OPA1 (O60313)
Q51R (p.Gln51Arg) 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 0.52 / 1. The record also includes population frequency data and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- rs148462105
- ClinGen CA2758941
- ClinVar RCV003877103
- ESP rs148462105
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.30
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available