A3S (p.Ala3Ser) variant of ACADVL (P49748)
A3S (p.Ala3Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 17-7219991-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.15
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available