T68K (p.Thr68Lys) variant of HMGCR (P04035)
T68K (p.Thr68Lys) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T68K (p.Thr68Lys) variant details
- p.Thr68Lys
- gnomAD 5-75343890-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available