T68I (p.Thr68Ile) variant of HMGCR (P04035)
T68I (p.Thr68Ile) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- gnomAD 5-75343890-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.60
- CADD 20.60
- PolyPhen-2 0.29
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available