I117M (p.Ile117Met) variant of HMGCS2 (P54868)
I117M (p.Ile117Met) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I117M (p.Ile117Met) variant details
- p.Ile117Met
- TOPMed rs928663340
- gnomAD rs928663340
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.19
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available