K137E (p.Lys137Glu) variant of HMGCS2 (P54868)
K137E (p.Lys137Glu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
K137E (p.Lys137Glu) variant details
- p.Lys137Glu
- TOPMed rs1653138229
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.91
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available