G20V (p.Gly20Val) variant of ACADVL (P49748)
G20V (p.Gly20Val) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 17-7220043-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.17
- CADD 9.77
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available