E20Q (p.Glu20Gln) variant of HMGCS2 (P54868)
E20Q (p.Glu20Gln) in HMGCS2 (P54868) is a missense change. 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.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- gnomAD rs1332746126
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.06
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available