R12del (p.Arg12del) variant of ACADVL (P49748)
R12del (p.Arg12del) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R12del (p.Arg12del) variant details
- rs756720482
- gnomAD 17-7220015-GGGC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 17.80
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available
- Literature evidence available