K17R (p.Lys17Arg) variant of COQ8A (Q8NI60)
K17R (p.Lys17Arg) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- rs150221608
- ClinGen CA38625628
- ClinVar RCV000516337
- ESP rs150221608
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.19
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available