L29V (p.Leu29Val) variant of ACAD9 (Q9H845)
L29V (p.Leu29Val) 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.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- gnomAD 3-128879776-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.22
- MetaLR 0.74
- MetaSVM 0.01
- CADD 1.17
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available