Q118R (p.Gln118Arg) variant of HMGCS2 (P54868)
Q118R (p.Gln118Arg) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q118R (p.Gln118Arg) variant details
- p.Gln118Arg
- TOPMed rs1235493293
- gnomAD rs1235493293
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.17
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available