V16I (p.Val16Ile) variant of COQ8A (Q8NI60)
V16I (p.Val16Ile) in COQ8A (Q8NI60) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- NCI-TCGA Cosmic COSV6465
- TOPMed rs1658245367
- gnomAD rs1658245367
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available