G60S (p.Gly60Ser) variant of COQ8A (Q8NI60)
G60S (p.Gly60Ser) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- rs369252071
- ClinGen CA1424958
- ClinVar RCV001976393
- ESP rs369252071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available