A21V (p.Ala21Val) variant of COQ8A (Q8NI60)
A21V (p.Ala21Val) in COQ8A (Q8NI60) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs142184584
- ClinGen CA324324
- cosmic curated COSV64659
- ClinVar RCV000199769
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.21
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available