M6K (p.Met6Lys) variant of ACADVL (P49748)
M6K (p.Met6Lys) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M6K (p.Met6Lys) variant details
- p.Met6Lys
- rs1314310675
- gnomAD 17-7217728-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 24.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available