A3A (p.Ala3Ala) variant of ACADVL (P49748)
A3A (p.Ala3Ala) in ACADVL (P49748) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1331036812
- gnomAD 17-7219993-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 11.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available