p.Arg32 Tyr40delinsHis variant of ACADVL (P49748)
p.Arg32 Tyr40delinsHis in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg32 Tyr40delinsHis variant details
- gnomAD 17-7220153-CGGCCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available