K17T (p.Lys17Thr) variant of COQ8A (Q8NI60)
K17T (p.Lys17Thr) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K17T (p.Lys17Thr) variant details
- p.Lys17Thr
- gnomAD 1-226961435-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.54
- CADD 24.50
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available