M8T (p.Met8Thr) variant of HMGCR (P04035)
M8T (p.Met8Thr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- TOPMed rs1051046202
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.13
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available