L43P (p.Leu43Pro) variant of COQ8A (Q8NI60)
L43P (p.Leu43Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 1-226961513-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available