M38V (p.Met38Val) variant of COQ8A (Q8NI60)
M38V (p.Met38Val) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- gnomAD 1-226961497-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.046
- REVEL 0.02
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available