A12S (p.Ala12Ser) variant of ACAD9 (Q9H845)
A12S (p.Ala12Ser) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 3-128879725-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.17
- CADD 7.39
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available