Q70E (p.Gln70Glu) variant of HMGCS2 (P54868)
Q70E (p.Gln70Glu) 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.
Q70E (p.Gln70Glu) variant details
- p.Gln70Glu
- Ensembl rs1653153296
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.84
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available