M32T (p.Met32Thr) variant of HMGCR (P04035)
M32T (p.Met32Thr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M32T (p.Met32Thr) variant details
- p.Met32Thr
- ESP rs371769368
- ExAC rs371769368
- gnomAD rs371769368
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.5e-05)
- Structural context available