N71H (p.Asn71His) variant of COQ8A (Q8NI60)
N71H (p.Asn71His) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N71H (p.Asn71His) variant details
- p.Asn71His
- gnomAD 1-226965033-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- CADD 10.00
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available