R7Q (p.Arg7Gln) variant of ACADM (P11310)
R7Q (p.Arg7Gln) in ACADM (P11310) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available