A69D (p.Ala69Asp) variant of COQ8A (Q8NI60)
A69D (p.Ala69Asp) 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 0.14 / 1. The record also includes population frequency data and structural context.
A69D (p.Ala69Asp) variant details
- p.Ala69Asp
- rs1169606390
- NCI-TCGA Cosmic COSV6465
- cosmic curated COSV64656
- TOPMed rs1169606390
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.11
- CADD 0.22
- PolyPhen-2 0.04
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available