N71T (p.Asn71Thr) variant of COQ8A (Q8NI60)
N71T (p.Asn71Thr) in COQ8A (Q8NI60) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N71T (p.Asn71Thr) variant details
- p.Asn71Thr
- rs752417487
- gnomAD 1-226965031-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available