N71Y (p.Asn71Tyr) variant of COQ8A (Q8NI60)
N71Y (p.Asn71Tyr) 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 0.15 / 1. The record also includes population frequency data and structural context.
N71Y (p.Asn71Tyr) variant details
- p.Asn71Tyr
- rs779601942
- ClinGen CA1424962
- ClinVar RCV001904534
- ExAC rs779601942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.10
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available