I62V (p.Ile62Val) variant of HMGCR (P04035)
I62V (p.Ile62Val) in HMGCR (P04035) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- gnomAD rs1178012749
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.30
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-06)
- Structural context available