A52S (p.Ala52Ser) variant of ACADM (P11310)
A52S (p.Ala52Ser) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- gnomAD rs1457255069
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.75
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available