G74D (p.Gly74Asp) variant of COQ8A (Q8NI60)
G74D (p.Gly74Asp) 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 0.16 / 1. The record also includes population frequency data and structural context.
G74D (p.Gly74Asp) variant details
- p.Gly74Asp
- NCI-TCGA Cosmic COSV6465
- cosmic curated COSV64657
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.15
- CADD 6.08
- PolyPhen-2 0.00
- SIFT 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available