T15R (p.Thr15Arg) variant of HMGCS2 (P54868)
T15R (p.Thr15Arg) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T15R (p.Thr15Arg) variant details
- p.Thr15Arg
- TOPMed rs1008466802
- gnomAD rs1008466802
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.15
- CADD 0.62
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available