K63N (p.Lys63Asn) variant of COQ8A (Q8NI60)
K63N (p.Lys63Asn) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
K63N (p.Lys63Asn) variant details
- p.Lys63Asn
- gnomAD rs1297904224
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available