H29Q (p.His29Gln) variant of COQ8A (Q8NI60)
H29Q (p.His29Gln) 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 0.20 / 1. The record also includes population frequency data and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- rs2528231325
- ClinGen CA345049616
- ClinVar RCV003036982
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.41
- 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