H19Q (p.His19Gln) variant of ACADM (P11310)
H19Q (p.His19Gln) in ACADM (P11310) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H19Q (p.His19Gln) variant details
- p.His19Gln
- ExAC rs762984318
- TOPMed rs762984318
- gnomAD rs762984318
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.27
- CADD 3.49
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available