H29Y (p.His29Tyr) variant of COQ8A (Q8NI60)
H29Y (p.His29Tyr) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- gnomAD 1-226961470-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available