A21R (p.Ala21Arg) variant of COQ8A (Q8NI60)
A21R (p.Ala21Arg) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A21R (p.Ala21Arg) variant details
- p.Ala21Arg
- gnomAD 1-226961444-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 27.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available