I62T (p.Ile62Thr) variant of HMGCR (P04035)
I62T (p.Ile62Thr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- gnomAD 5-75343872-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.70
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available