T47K (p.Thr47Lys) variant of HMGCS2 (P54868)
T47K (p.Thr47Lys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T47K (p.Thr47Lys) variant details
- p.Thr47Lys
- TOPMed rs1653157007
- gnomAD rs1653157007
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.15
- SIFT 0.33
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available