E132D (p.Glu132Asp) variant of HMGCS2 (P54868)
E132D (p.Glu132Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E132D (p.Glu132Asp) variant details
- p.Glu132Asp
- ExAC rs753951770
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.88
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available