M10I (p.Met10Ile) variant of COQ8A (Q8NI60)
M10I (p.Met10Ile) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- gnomAD 1-226961414-TGGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available