K13R (p.Lys13Arg) variant of COQ8A (Q8NI60)
K13R (p.Lys13Arg) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- gnomAD 1-226961421-TAA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available