A38V (p.Ala38Val) variant of ACAD9 (Q9H845)
A38V (p.Ala38Val) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- gnomAD 3-128879804-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- MetaLR 0.85
- MetaSVM 0.60
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available