R31G (p.Arg31Gly) variant of ACADM (P11310)
R31G (p.Arg31Gly) in ACADM (P11310) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- ExAC rs768452911
- TOPMed rs768452911
- gnomAD rs768452911
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.35
- CADD 16.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available