L20V (p.Leu20Val) variant of ACAD9 (Q9H845)
L20V (p.Leu20Val) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- gnomAD 3-128879749-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.23
- CADD 10.20
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available