I91T (p.Ile91Thr) variant of HMGCR (P04035)
I91T (p.Ile91Thr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I91T (p.Ile91Thr) variant details
- p.Ile91Thr
- gnomAD 5-75343959-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.88
- CADD 27.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available