Q54H (p.Gln54His) variant of OPA1 (O60313)
Q54H (p.Gln54His) in OPA1 (O60313) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- ExAC rs760710808
- TOPMed rs760710808
- gnomAD rs760710808
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.36
- CADD 4.97
- PolyPhen-2 0.36
- SIFT 0.57
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available