Q50H (p.Gln50His) variant of COQ8A (Q8NI60)
Q50H (p.Gln50His) in COQ8A (Q8NI60) 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 0.37 / 1. The record also includes population frequency data and structural context.
Q50H (p.Gln50His) variant details
- p.Gln50His
- rs2148052080
- ClinGen CA345049741
- ClinVar RCV001663626
- Ensembl rs2148052080
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- CADD 21.00
- PolyPhen-2 0.36
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available