I71T (p.Ile71Thr) variant of HMGCR (P04035)
I71T (p.Ile71Thr) 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.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- gnomAD 5-75343899-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.69
- CADD 23.00
- PolyPhen-2 0.28
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available