V23A (p.Val23Ala) variant of COQ8A (Q8NI60)
V23A (p.Val23Ala) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- rs778770085
- ClinGen CA1424919
- ClinVar RCV002711924
- ExAC rs778770085
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available