Q118P (p.Gln118Pro) variant of HMGCS2 (P54868)
Q118P (p.Gln118Pro) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q118P (p.Gln118Pro) variant details
- p.Gln118Pro
- TOPMed rs1235493293
- gnomAD rs1235493293
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.24
- CADD 19.20
- PolyPhen-2 0.23
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available