M32I (p.Met32Ile) variant of HMGCR (P04035)
M32I (p.Met32Ile) 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, published literature, and structural context.
M32I (p.Met32Ile) variant details
- p.Met32Ile
- gnomAD 5-75342701-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available