I4K (p.Ile4Lys) variant of COQ8A (Q8NI60)
I4K (p.Ile4Lys) 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 0.38 / 1. The record also includes population frequency data and structural context.
I4K (p.Ile4Lys) variant details
- p.Ile4Lys
- rs202075418
- ClinGen CA324879
- ClinVar RCV000200326
- ESP rs202075418
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available