L12S (p.Leu12Ser) variant of ACADM (P11310)
L12S (p.Leu12Ser) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- rs756654520
- gnomAD 1-75728396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available