A17E (p.Ala17Glu) variant of HMGCS2 (P54868)
A17E (p.Ala17Glu) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- 1000Genomes rs587712415
- ExAC rs587712415
- TOPMed rs587712415
- gnomAD rs587712415
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.22
- CADD 0.16
- PolyPhen-2 0.12
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available