I102T (p.Ile102Thr) variant of HMGCS2 (P54868)
I102T (p.Ile102Thr) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
I102T (p.Ile102Thr) variant details
- p.Ile102Thr
- ExAC rs766672926
- TOPMed rs766672926
- gnomAD rs766672926
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.85
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available