A21T (p.Ala21Thr) variant of COQ8A (Q8NI60)
A21T (p.Ala21Thr) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 1-226961446-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available