T108M (p.Thr108Met) variant of HMGCS2 (P54868)
T108M (p.Thr108Met) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T108M (p.Thr108Met) variant details
- p.Thr108Met
- cosmic curated COSV65568
- ExAC rs765384188
- TOPMed rs765384188
- gnomAD rs765384188
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available