Q30H (p.Gln30His) variant of ACADVL (P49748)
Q30H (p.Gln30His) 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.
Q30H (p.Gln30His) variant details
- p.Gln30His
- rs1308921229
- gnomAD 17-7217756-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 20.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available