I64T (p.Ile64Thr) variant of HMGCR (P04035)
I64T (p.Ile64Thr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I64T (p.Ile64Thr) variant details
- p.Ile64Thr
- gnomAD 5-75343878-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.67
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available