K57E (p.Lys57Glu) variant of COQ8A (Q8NI60)
K57E (p.Lys57Glu) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- rs746720374
- ClinGen CA1424938
- ClinVar RCV003039143
- ExAC rs746720374
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- REVEL 0.07
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available