I21T (p.Ile21Thr) variant of HMGCR (P04035)
I21T (p.Ile21Thr) 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 and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- ExAC rs745371345
- TOPMed rs745371345
- gnomAD rs745371345
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available