A13S (p.Ala13Ser) variant of ACAD9 (Q9H845)
A13S (p.Ala13Ser) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 3-128879728-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.20
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available