G73S (p.Gly73Ser) variant of COQ8A (Q8NI60)
G73S (p.Gly73Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- rs1244551709
- NCI-TCGA Cosmic COSV9906
- cosmic curated COSV99067
- TOPMed rs1244551709
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available