D72E (p.Asp72Glu) variant of HMGCS2 (P54868)
D72E (p.Asp72Glu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D72E (p.Asp72Glu) variant details
- p.Asp72Glu
- Ensembl rs1571042729
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- CADD 7.23
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available