A13T (p.Ala13Thr) variant of ACAD9 (Q9H845)
A13T (p.Ala13Thr) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 3-128879728-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.23
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available