L44P (p.Leu44Pro) variant of HMGCS2 (P54868)
L44P (p.Leu44Pro) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- ExAC rs749336738
- gnomAD rs749336738
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.28
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available