I11L (p.Ile11Leu) variant of HMGCS2 (P54868)
I11L (p.Ile11Leu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I11L (p.Ile11Leu) variant details
- p.Ile11Leu
- Ensembl rs1653326072
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.18
- CADD 8.05
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available