G19A (p.Gly19Ala) variant of ACADVL (P49748)
G19A (p.Gly19Ala) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD 17-7220035-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 9.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available