I67V (p.Ile67Val) variant of HMGCR (P04035)
I67V (p.Ile67Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- cosmic curated COSV55317
- TOPMed rs1479509540
- gnomAD rs1479509540
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.24
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available