R13K (p.Arg13Lys) variant of ACADM (P11310)
R13K (p.Arg13Lys) in ACADM (P11310) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs1160997519
- TOPMed rs1160997519
- gnomAD rs1160997519
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.43
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available